Institute for Functional Gene Analytics (IFGA)
Prof. Dr Jörn Oliver Sass
Professor of Bioanalytics and Biochemistry, Research Group Inborn Errors ob Metabolism (RG Sass)
Unit
Department of Natural Sciences
Location
Rheinbach
Room
I 218; Labor F 012
Address
von-Liebig-Str. 20
53359 Rheinbach
Telephone
+49 2241 865 9668Profile
Teaching Activities
• Methods of Bioanalysis & Laboratory Diagnostics
• Pathobiochemistry & Metabolic Diseases
• Inborn Errors of Metabolism
Research
Study of pathobiochemical mechanisms and laboratory diagnostics of inborn errors of metabolism, with special focus on aminoacylases (Aminoacylase 1 deficiency, Canavan disease), on amino acid N-acyltransferases und the metabolism of branched-chain and selected other amino acids (including disorders of ketone body formation and utilization). Development and implementation of bioanalytical methods for laboratory diagnostics.
Students with great interest in inborn errors of metabolism, biochemistry and methods of bioanalytics or molecular biology (and good grades) are invited to send a letter of motivation, CV and transcript of records to joern.oliver.sass@h-brs.de.
Additional functions
- Study Advisor Applied Biology and Biomedical Sciences
Curriculum vitae
Professional History
1991: Diplom-Biochemiker (M.Sc. equivalent; Free University Berlin)
1991-1995: Research Associate (Free University Berlin)
1991-1993: Postgraduate diploma course in Environmental Protection at the Humboldt-University Berlin
1996: Promotion to Dr. rer. nat. (Ph.D. equivalent; Free University Berlin)
1996-2001: University Assistant at University of Innsbruck (University Hospital of Child and Adolescent Medicine), Austria
2002-2006: Head of the Laboratory of Metabolism of the Center of Child and Adolescent Medicine (ZKJ) of the University Hospital Freiburg; trainer according to the German Vocational Training Act
2005: Habilitation (postdoctoral degree with lecturing qualification) in Clinical Biochemistry (Albert-Ludwigs-University Freiburg)
2006-2012: Head of the Laboratory of Clinical Biochemistry and Metabolism, Administrative Head of the Laboratories of Hematology and Hemostaseology (ZKJ, University Hospital Freiburg)
Since 2009: Apl. Professor (supernumerary professor) of the Albert-Ludwigs-University Freiburg
Since 2010: Communicating Editor/Advisory Board Member of the Journal of Inherited Metabolic Disease
2012-2014: Principal Chemist, University Children’s Hospital Zürich; lecturer at the University of Zürich
Since 2015: Professor of Biology, in particular of Bioanalytics and Biochemistry (Bonn-Rhein-Sieg University of Applied Sciences)
2017-2020: Research Professor
2020-2021: Visiting Professor, UCD Conway Institute of Biomolecular & Biomedical Research, University College Dublin (Ireland)
Memberships
Member of the Education and Training Advisory Committee (ETAC) of the Society for the Study of Inborn Errors Metabolism (SSIEM; www.ssiem.org) and of the European registry and network for Intoxication type Metabolic Diseases (E-IMD; www.e-imd.org) as well as cooperation partner of Metabolicum Ruhr (www.metabolicum-ruhr.de).
Projects
Research Projects
An analysis platform consisting of four components offers a significant expansion of biomedical analysis possibilities at Hochschule Bonn-Rhein-Sieg (H-BRS). A binding analysis device based on microscaled thermophoresis contributes an innovative approach to characterising interactions involving proteins. A multi-mode detection device for UV/Vis, fluorescence and luminescence allows, among other things, a variety of enzyme activity tests and imaging studies in new or improved form. An automated patch clamp system and a system for solid-supported membrane (SSM)-based electrophysiology for high-resolution transporter studies provide the equipment basis for expanding research into membrane transport processes and other molecular mechanisms of disease development.
Project management at the H-BRS
Prof. Dr Jörn Oliver Sass
So called ketone bodies acetoacetic acid and (R)-3-hydroxy-n-butyric acid (bOHB) are compounds which provide the brain with fatty acid-derived energy, mainly after fasting. In recent years it has become obvious that ketone bodies can have more biological functions than just being energy carriers. Our project is devoted to such roles of ketone bodies that may also be important for pathogenesis and treatment of diseases.
Project management at the H-BRS
Prof. Dr Jörn Oliver Sass
Our research group studies rare genetic defects in metabolic pathways. We are aiming at a better understanding of pathomechanisms underlying such inborn errors of metabolism. We continuously offer internships and thesis projects focused on analytical biochemistry (for example on the development of diagnostic tests) and on the characterization of metabolic diseases. Phase 2 reactions increase the water solubility of compounds and thus facilitate their excretion. This can be achieved by conjugation of a coenzyme A (coA)-activated acid for instance with an amino acid molecule.
Project management at the H-BRS
Prof. Dr Jörn Oliver Sass
Individual variants in the DNA sequence (i.e. the linear sequence of the 4 DNA building blocks, the so-called bases) are called polymorphisms and can influence the function of genes and thus contribute to the clinical manifestation of diseases or influence their course and therapy. In addition, polymorphism patterns can be so characteristic for each individual that they also enable the forensic identification of perpetrators and victims on the basis of a DNA trace.
Project management at the H-BRS
Prof. Dr Richard Jäger
Our research group studies rare genetic defects in metabolic pathways. We are aiming at a better understanding of pathomechanisms underlying such inborn errors of metabolism. Many metabolic diseases result in early death or severe handicaps if they are not treated in an adequate manner. Early diagnosis is a prerequisite for therapeutic approaches, which may enable normal development in some of those diseases.
Project management at the H-BRS
Prof. Dr Jörn Oliver Sass
Our research group studies rare genetic defects in metabolic pathways. We are aiming at a better understanding of pathomechanisms underlying such inborn errors of metabolism (IEM). Many metabolic diseases result in early death or severe handicaps if they are not treated in an adequate manner. Early diagnosis is a prerequisite for therapeutic approaches, which may enable normal development in some of those diseases.
Project management at the H-BRS
Prof. Dr Jörn Oliver Sass
Publications
Prof. Dr. Jörn Oliver Sass
2024
Bernd C. Schwahn, Francjan van Spronsen, Albert Misko, Julija Pavaine, Victoria Holmes, Ronen Spiegel, Guenter Schwarz, Flora Wong, Alistair Horman, James Pitt, Jörn Oliver Sass, Charlotte Lubout:
Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies.
PDF Download (CC BY 4.0) doi:10.1002/jimd.12730 PMID urn:nbn:de:hbz:1044-opus-82853
BibTeX | RIS
2023
Vanessa Bortoluzzi, Camila Vieira Pinheiro, Rafael Teixeira Ribeiro, Sâmela Cunha, Alexandre Umpierrez Amaral, Roger Castilho, Jörn Sass, Moacir Wajner:
Experimental evidence that N-acetylglutamate and N-acetylmethionine compromises mitochondrial functions besides inhibiting citric acid cycle enzyme and respiratory chain activities in brain of young rats.
doi:10.1016/j.freeradbiomed.2023.10.142
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Jörn Oliver Sass, Birutė Skerlienė:
In memoriam Willy Lehnert.
doi:10.1002/jimd.12686 PMID
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Vanessa Trindade Bortoluzzi, Rafael Teixeira Ribeiro, Camila Vieira Pinheiro, Ediandra Tissot Castro, Tailine Quevedo Tavares, Guilhian Leipnitz, Jörn Oliver Sass, Roger Frigério Castilho, Alexandre Umpierrez Amaral, Moacir Wajner:
N-Acetylglutamate and N-acetylmethionine compromise mitochondrial bioenergetics homeostasis and glutamate oxidation in brain of developing rats: Potential implications for the pathogenesis of ACY1 deficiency.
doi:10.1016/j.bbrc.2023.149123 PMID
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Vanessa Trindade Bortoluzzi, Rafael Teixeira Ribeiro, Ângela Beatris Zemniaçak, Sâmela de Azevedo Cunha, Jörn Oliver Sass, Roger Frigério Castilho, Alexandre Umpierrez Amaral, Moacir Wajner:
Disturbance of mitochondrial functions caused by N-acetylglutamate and N-acetylmethionine in brain of adolescent rats: Potential relevance in aminoacylase 1 deficiency.
doi:10.1016/j.neuint.2023.105631 PMID
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Stefan Kühn, Monray E. Williams, Marli Dercksen, Jörn Oliver Sass, Rencia van der Sluis:
The glycine N-acyltransferases, GLYAT and GLYATL1, contribute to the detoxification of isovaleryl-CoA - an in-silico and in vitro validation.
PDF Download (CC BY-NC-ND 4.0) doi:10.1016/j.csbj.2023.01.041 urn:nbn:de:hbz:1044-opus-66037 PMID
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Jörn Oliver Sass, Daniel Schulke:
Intracellular localization of Glycine N-acyltransferase-like protein 1 (GLYATL1).
URL
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2022
Daniel Schulke, Jana C. Hollenbeck, Lil Klaas, Jörn Oliver Sass:
Funktionale Gen-Analytik: Angeborenen Stoffwechselstörungen auf der Spur.
URL
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Florin Sasarman, Sacha Ferdinandusse, David S. Sinasac, Ernest Fung, Rebecca Sparkes, Melanie Reeves, Catherine Rombough, Jörn Oliver Sass, Renate Voit, Jos P. N. Ruiter, Janet Koster, Hans R. Waterham, Elisabetta Pasquini, Maria A. Donati, Thorsten Marquardt, Ronald J. A. Wanders, Walla Al-Hertani:
3-Hydroxyisobutyric Acid Dehydrogenase Deficiency: Expanding the Clinical Spectrum and Quantitation of D- and L-3-Hydroxyisobutyric Acid by an LC-MS/MS Method.
doi:10.1002/jimd.12486 PMID
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Jörn Oliver Sass, Sarah C. Grünert:
Disorders of Ketone Body Metabolism and Transport.
doi:10.1007/978-3-030-67727-5_50
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Nicola Longo, Jörn Oliver Sass, Agnieszka Jurecka, Jerry Vockley:
Biomarkers for drug development in propionic and methylmalonic acidemias.
PDF Download (CC BY-ND 4.0) doi:10.1002/jimd.12478 PMID urn:nbn:de:hbz:1044-opus-60770
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Sarah C. Grünert, Jörn Oliver Sass:
Correction to: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.
PDF Download (Corrigendum, CC BY 4.0) doi:10.1186/s13023-021-02154-z PMID
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2021
Déborah Mathis, Jörn Oliver Sass, Claudia Graubner, Angelika Schoster:
Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses.
PDF Download (CC BY-NC-ND 4.0) doi:10.1016/j.ymgmr.2021.100827 urn:nbn:de:hbz:1044-opus-60155 PMID
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Corinna Melanie Held, Anic Guebelin, Andreas Krebs, Jörn Oliver Sass, Michael Wurm, Ekkehart Lausch, Natascha van der Werf-Grohmann, Karl Otfried Schwab:
Screening for hypophosphatasia: does biochemistry lead the way?.
doi:10.1515/jpem-2021-0104 PMID
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S. Grünert, W. Foster, A. Schumann, L. Allan, C. Pontes, S. Roloff, N. Weinhold, W. Yue, A. AlAsmari, O. Obaid, E. Faqeih, L. Stübbe, R. Yamamoto, C. Gemperle-Britschgi, M. Walter, U. Spiekerkoetter, S. Mackinnon, J. Sass:
The clinical spectrum and molecular heterogeneity of Succinyl- CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency.
URL
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D. Schulke, J. Sass:
Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism.
URL
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A. Schumann, K. Schaller, V. Belche, M. Cybulla, S. Grünert, N. Moers, J. Sass, A. Kaech, L. Hannibal, U. Spiekerkötter:
Impact of Fabry disease on mitochondrial homeostasis in renal epithelial cells.
URL
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Melanie Meyer, Jana C. Hollenbeck, Janine Reunert, Anja Seelhöfer, Stephan Rust, Manfred Fobker, Saskia Biskup, Ulrike Och, Mechthild Linden, Jörn Oliver Sass, Thorsten Marquardt:
3-Hydroxyisobutyrate Dehydrogenase (HIBADH) deficiency - a novel disorder of valine metabolism.
PDF Download (CC BY-NC-ND 4.0) doi:10.1002/jimd.12410 PMID urn:nbn:de:hbz:1044-opus-56230
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Anke Schumann, Kristin Schaller, Véronique Belche, Markus Cybulla, Sarah C. Grünert, Nicolai Moers, Jörn O. Sass, Andres Kaech, Luciana Hannibal, Ute Spiekerkoetter:
Defective lysosomal storage in Fabry Disease modifies mitochondrial structure, metabolism and turnover in renal epithelial cells.
PDF Download (CC BY-NC-ND 4.0) doi:10.1002/jimd.12373 PMID urn:nbn:de:hbz:1044-opus-53487
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Sarah C. Grünert, William Foster, Anke Schumann, Allan Lund, Christina Pontes, Sylvia Roloff, Natalie Weinhold, Wyatt W. Yue, Ali AlAsmari, Osama A. Obaid, Eissa Ali Faqeih, Lisa Stübbe, Raina Yamamoto, Corinne Gemperle-Britschgi, Melanie Walter, Ute Spiekerkötter, Sabrina Mackinnon, Jörn Oliver Sass:
Succinyl-CoA:3-oxoacid coenzyme A transferase (SCOT) deficiency: A rare and potentially fatal metabolic disease.
doi:10.1016/j.biochi.2021.02.003 PMID
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Patrick Forny, Friederike Hörster, Diana Ballhausen, Anupam Chakrapani, Kimberly A. Chapman, Carlo Dionisi-Vici, Marjorie Dixon, Sarah C. Grünert, Stephanie Grunewald, Goknur Haliloglu, Michel Hochuli, Tomas Honzik, Daniela Karall, Diego Martinelli, Femke Molema, Jörn Oliver Sass, Sabine Scholl-Bürgi, Galit Tal, Monique Williams, Martina Huemer, Matthias R. Baumgartner:
Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.
PDF Download (CC BY-NC-ND 4.0) doi:10.1002/jimd.12370 PMID urn:nbn:de:hbz:1044-opus-53336
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Daniel Schulke, Jörn Oliver Sass:
Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism.
doi:10.1016/j.biochi.2021.02.002 PMID
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Jörn Oliver Sass, Sarah C. Grünert:
Impaired ketone body utilisation as a cause of life-threatening ketoacidosis.
doi:10.1136/postgradmedj-2021-139710 PMID
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Matthew D. Benson, David J. A. Plemel, Paul R. Freund, James R. Lewis, Jörn Oliver Sass, Luzy Bähr, Corinne Gemperle-Britschgi, Patrick Ferreira, Ian M. MacDonald:
Severe retinal degeneration in a patient with Canavan disease.
doi:10.1080/13816810.2020.1827441 PMID
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2020
Andreas Krebs, Andreas Baum, Jürgen Doerfer, Klaus Gempel, Michael Wurm, Corinna Brichta, Jörn Oliver Sass, Karl Winkler, Karl Otfried Schwab:
Short-Term Effects of Growth Hormone on Lipolysis, Glucose and Amino Acid Metabolism Assessed in Serum and Microdialysate of Healthy Young Men.
doi:10.1055/a-1027-6620 PMID
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Grant A. Mitchell, Hideo Sasai, Jean Bastin, Jörn Oliver Sass, Ronald Ja Wanders, Seiji Yamaguchi:
Toshiyuki Fukao.
doi:10.1002/jimd.12308
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Mohamed A. Elmonem, Amaya Belanger-Quintana, Andrea Bordugo, Ritma Boruah, Elisenda Cortès-Saladelafont, Mounika Endrakanti, Pilar Giraldo, Sarah Catharina Grünert, Neerja Gupta, Madhulika Kabra, Ina Knerr, Johannes Krämer, Alice Kuster, Elena Levtchenko, Lock-Hock Ngu, M. Mar Rovira-Remisa, Jörn Oliver Sass, Jolanta Sykut-Cegielska, Albina Tummolo, Lambertus P. van den Heuvel:
The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective.
doi:10.1016/j.ymgme.2020.09.004 PMID URL
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Jörn Oliver Sass:
Labordiagnostik bei angeborenen Stoffwechselstörungen.
doi:10.1007/s00112-020-00938-4
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Sarah C. Grünert, Jörn Oliver Sass:
2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.
PDF Download (CC BY 4.0) doi:10.1186/s13023-020-01357-0 urn:nbn:de:hbz:1044-opus-48946 PMID
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Sarah C. Grünert, Jörn Oliver Sass:
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.
PDF Download (CC BY 4.0) doi:10.1186/s13023-020-1319-7 urn:nbn:de:hbz:1044-opus-47684 PMID
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Jörn Oliver Sass, Sidney Behringer, Malkanthi Fernando, Elisabetta Cesaroni, Ida Cursio, Alberto Volpini, Claudia Till:
d-Glycerate kinase deficiency in a neuropediatric patient.
doi:10.1016/j.braindev.2019.11.008 PMID
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2019
Despina Tsortouktzidis, Kathleen Grundke, Claudia Till, Anne Korwitz-Reichelt, Jörn Oliver Sass:
Acylpeptide hydrolase (APEH) sequence variants with potential impact on the metabolism of the antiepileptic drug valproic acid.
doi:10.1007/s11011-019-00470-9 PMID
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S. Roloff, L. Stübbe, C. Gemperle-Britschgi, R. Yamamoto, J. Hennermann, N. Weinhold, J. O. Sass:
Disorders of ketone body transport and utilization as a cause of recurrent metabolic acidosis: succinyl-coenzyme A: 3-oxoacyl coenzyme A transferase (SCOT) deficiency (mutations in the OXCT1 gene) and monocarboxylate transporter 1 (MCT1) deficiency.
URL
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Jörn Oliver Sass, Ina Knerr:
Aspartoacylase Deficiency (Canavan Disease, N-Acetylaspartic Aciduria).
doi:10.1007/978-981-13-2977-7_2
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Maja Dembic, Henriette S. Andersen, Jean Bastin, Thomas K. Doktor, Thomas J. Corydon, Jörn Oliver Sass, Alexandra Lopes Costa, Fatima Djouadi, Brage S. Andresen:
Next generation sequencing of RNA reveals novel targets of resveratrol with possible implications for Canavan disease.
doi:10.1016/j.ymgme.2018.10.004 PMID
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2018
Ina Knerr, Laurie Bernstein, Ellen Crushell, Siobhan O’Sullivan, Jörn Oliver Sass:
Amino Acids and Inherited Amino Acid-Related Disorders.
PDF Download (CC BY 4.0) doi:10.1155/2018/5629454 urn:nbn:de:hbz:1044-opus-40610 PMID
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Jörn Oliver Sass, Malkanthi Fernando, Sidney Behringer:
Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency: An Artefact in the Analysis of Urinary Organic Acids.
PDF Download (CC BY 4.0) doi:10.1177/2326409818797361 urn:nbn:de:hbz:1044-opus-40285
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Ebru Canda, Havva Yazici, E. R. Esra, Sema Kalkan Ucar, Corinne Gemperle-Britschgi, Sara Habif, Huseyin Onay, Jörn Oliver Sass, Mahmut Coker:
Tekrarlayan ketoasidoz atakları: Keton metabolizma bozuklukluğu olabilir mi?.
doi:10.5222/buchd.2018.115
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Jörn Oliver Sass, Toshiyuki Fukao, Grant A. Mitchell:
Inborn Errors of Ketone Body Metabolism and Transport: An Update for the Clinic and for Clinical Laboratories.
PDF Download (CC BY 4.0) doi:10.1177/2326409818771101 urn:nbn:de:hbz:1044-opus-36412
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A. Korwitz-Reichelt, M. Walter, J. O. Sass:
Human D-glycerate kinase is a mitochondrial protein.
URL
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L. Klaas, J. O. Sass:
Deciphering novel functions of aminoacylases.
URL
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A. Korwitz-Reichelt, D. Tsortouktzidis, K. Grundke, J. O. Sass:
Characterization of acylpeptide hydrolase sequence variants -potential implications for valproic acid efficacy and Alzheimer’s disease.
URL
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Jörn Oliver Sass, Barbara Plecko-Startinig:
Sulfite Oxidase Deficiency/Molybdenum Cofactor Deficiency and Epilepsy.
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Jörn Oliver Sass, Sema Kalkan Uçar, Clara D.M. van Karnebeek:
From rodent heart to inborn errors of human metabolism.
doi:10.1016/j.ymgme.2018.02.001 PMID
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Simon Julius Mayr, Jörn Oliver Sass, Julia Vry, Janbernd Kirschner, Irina Mader, Jan-Bernd Hövener, Jochen Reiss, José Angel Santamaria-Araujo, Günter Schwarz, Sarah Catharina Grünert:
A mild case of molybdenum cofactor deficiency defines an alternative route of MOCS1 protein maturation.
doi:10.1007/s10545-018-0138-7 PMID
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2017
Gonca Kılıç-Yıldırım, Sultan Durmuş-Aydoğdu, Serdar Ceylaner, Jörn Oliver Sass:
Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis.
doi:10.24953/turkjped.2017.04.016 PMID
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Arjan Pol, G. Herma Renkema, Albert Tangerman, Edwin G. Winkel, Udo F. Engelke, Arjan P. M. de Brouwer, Kent C. Lloyd, Renee S. Araiza, Lambert van den Heuvel, Heymut Omran, Heike Olbrich, Marijn Oude Elberink, Christian Gilissen, Richard J. Rodenburg, Jörn Oliver Sass, K. Otfried Schwab, Hendrik Schäfer, Hanka Venselaar, J. Silvia Sequeira, Huub J. M. Op den Camp, Ron A. Wevers:
Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.
doi:10.1038/s41588-017-0006-7 PMID URL
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Stephanie Oerum, Martine Roovers, Michael Leichsenring, Cécile Acquaviva-Bourdain, Frauke Beermann, Corinne Gemperle-Britschgi, Alain Fouilhoux, Anne Korwitz-Reichelt, Henry J. Bailey, Louis Droogmans, Udo Oppermann, Jörn Oliver Sass, Wyatt W. Yue:
Novel patient missense mutations in the HSD17B10 gene affect dehydrogenase and mitochondrial tRNA modification functions of the encoded protein.
doi:10.1016/j.bbadis.2017.09.002 PMID
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Jan-Niclas Schwade, Matthias Endmann, Thomas Hofmann, Stephan Rust, Jörn Oliver Sass, Frank Rutsch:
When one disease is not enough: Succinyl-CoA: 3-oxoacid coenzyme A transferase (SCOT) deficiency due to a novel mutation in OXCT1 in an infant with known phenylketonuria.
doi:10.1515/jpem-2017-0177 PMID
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Sarah Catharina Grünert, Robert Niklas Schmitt, Sonja Marina Schlatter, Corinne Gemperle-Britschgi, Mehmet Cihan Balcı, Volker Berg, Mahmut Çoker, Anibh M. Das, Mübeccel Demirkol, Terry G. J. Derks, Gülden Gökçay, Sema Kalkan Uçar, Vassiliki Konstantopoulou, G. Christoph Korenke, Amelie Sophia Lotz-Havla, Andrea Schlune, Christian Staufner, Christel Tran, Gepke Visser, Karl Otfried Schwab, Toshiyuki Fukao, Jörn Oliver Sass:
Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
doi:10.1016/j.ymgme.2017.06.012 PMID
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Sarah Catharina Grünert, Sonja Marina Schlatter, Robert Niklas Schmitt, Corinne Gemperle-Britschgi, Lenka Mrázová, Mehmet Cihan Balcı, Felix Bischof, Mahmut Çoker, Anibh M. Das, Mübeccel Demirkol, Maaike de Vries, Gülden Gökçay, Johannes Häberle, Sema Kalkan Uçar, Amelie Sophia Lotz-Havla, Thomas Lücke, Dominique Roland, Frank Rutsch, René Santer, Andrea Schlune, Christian Staufner, Karl Otfried Schwab, Grant A. Mitchell, Jörn Oliver Sass:
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
doi:10.1016/j.ymgme.2017.05.014 PMID
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Michael A. Swanson, Stephanie M. Garcia, Elaine Spector, Kathryn Kronquist, Geralyn Creadon-Swindell, Melanie Walter, Ernst Christensen, Johan L.K. van Hove, Jörn Oliver Sass:
d-Glyceric aciduria does not cause nonketotic hyperglycinemia: A historic co-occurrence.
doi:10.1016/j.ymgme.2017.04.009 PMID
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Attia Kalim, Patricia Fitzsimons, Claudia Till, Malkanthi Fernando, Philip Mayne, Jörn Oliver Sass, Ellen Crushell:
Further evidence that d-glycerate kinase (GK) deficiency is a benign disorder.
doi:10.1016/j.braindev.2017.01.005 PMID
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Florian Grahammer, Suresh K. Ramakrishnan, Markus M. Rinschen, Alexey A. Larionov, Maryam Syed, Hazim Khatib, Malte Roerden, Jörn Oliver Sass, Martin Helmstaedter, Dorothea Osenberg, Lucas Kuhne, Oliver Kretz, Nicola Wanner, Francois Jouret, Thomas Benzing, Ferruh Artunc, Tobias B. Huber, Franziska Theilig:
mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells.
doi:10.1681/ASN.2015111224 PMID
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2016
Georg Staubli, Matthias Baumgartner, Jörn Oliver Sass, Martin Hersberger:
Laughing Gas in a Pediatric Emergency Department-Fun for All Participants: Vitamin B12 Status Among Medical Staff Working With Nitrous Oxide.
doi:10.1097/PEC.0000000000000582 PMID
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Hiroki Otsuka, Hideo Sasai, Mina Nakama, Yuka Aoyama, Elsayed Abdelkreem, Hidenori Ohnishi, Vassiliki Konstantopoulou, Jörn Oliver Sass, Toshiyuki Fukao:
Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.
doi:10.3892/mmr.2016.5819 PMID
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Jörn Oliver Sass, Corinne Gemperle-Britschgi, Maja Tarailo-Graovac, Nisha Patel, Melanie Walter, Albena Jordanova, Majid Alfadhel, Ivo Barić, Mahmut Coker, Aynur Damli-Huber, Eissa Ali Faqeih, Nuria García Segarra, Michael T. Geraghty, Bjørn Magne Jåtun, Sema Kalkan Ucar, Merten Kriewitz, Markus Rauchenzauner, Karmen Bilić, Ivailo Tournev, Claudia Till, Bryan Sayson, Daniel Beumer, Cynthia Xin Ye, Lin-Hua Zhang, Hilary Vallance, Fowzan S. Alkuraya, Clara D.M. van Karnebeek:
Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAHmutations: 20 new mutations in 14 families.
doi:10.1016/j.ymgme.2016.07.008 PMID
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Nasser Dhayat, Alexandre Simonin, Manuel Anderegg, Ganesh Pathare, Benjamin P. Lüscher, Christine Deisl, Giuseppe Albano, David Mordasini, Matthias A. Hediger, Daniel V. Surbek, Bruno Vogt, Jörn Oliver Sass, Barbara Kloeckener-Gruissem, Daniel G. Fuster:
Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria.
doi:10.1681/ASN.2015040411 PMID
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Jörn Oliver Sass, Jathana Vaithilingam, Corinne Gemperle-Britschgi, Cathérine C. S. Delnooz, Leo A. J. Kluijtmans, Bart P. C. van de Warrenburg, Ron A. Wevers:
Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.
doi:10.1007/s11011-015-9778-6 PMID
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Shanti Balasubramaniam, Barry Lewis, Lawrence Greed, David Meili, Annegret Flier, Raina Yamamoto, Karmen Bilić, Claudia Till, Jörn Oliver Sass:
Heterozygous Monocarboxylate Transporter 1 (MCT1, SLC16A1) Deficiency as a Cause of Recurrent Ketoacidosis.
doi:10.1007/8904_2015_519 PMID
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2015
Jacob Hagen, Heleen te Brinke, Ronald J A Wanders, Alida C. Knegt, Esmee Oussoren, A Jeannette M Hoogeboom, George J G Ruijter, Daniel Becker, Karl Otfried Schwab, Ingo Franke, Marinus Duran, Hans R. Waterham, Jörn Oliver Sass, Sander M. Houten:
Genetic basis of alpha-aminoadipic and alpha-ketoadipic aciduria.
doi:10.1007/s10545-015-9841-9 PMID
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2014
Marta Torrente, Adriano Guetg, Jörn Oliver Sass, Lisa Arps, Lisa Ruckstuhl, Simone M. R. Camargo, François Verrey:
Amino acids regulate transgene expression in MDCK cells.
doi:10.1371/journal.pone.0096823 PMID
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Miriam S. Reuter, Jörn Oliver Sass, Thomas Leis, Julia Köhler, Johannes A. Mayr, René G. Feichtinger, Manfred Rauh, Ina Schanze, Luzy Bähr, Regina Trollmann, Steffen Uebe, Arif B. Ekici, André Reis:
HIBCH deficiency in a patient with phenotypic characteristics of mitochondrial disorders.
doi:10.1002/ajmg.a.36766 PMID
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Alexander Laemmle, Christian Balmer, Carsten Doell, Jörn Oliver Sass, Johannes Häberle, Matthias R. Baumgartner:
Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy.
doi:10.1007/s00431-014-2359-6 PMID
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Zsofia Kovacs, Beat Werner, Anahita Rassi, Jörn Oliver Sass, Ernst Martin-Fiori, Michele Bernasconi:
Prolonged survival upon ultrasound-enhanced doxorubicin delivery in two syngenic glioblastoma mouse models.
doi:10.1016/j.jconrel.2014.05.033 PMID
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Toshiyuki Fukao, Grant Mitchell, Jörn Oliver Sass, Tomohiro Hori, Kenji Orii, Yuka Aoyama:
Ketone body metabolism and its defects.
doi:10.1007/s10545-014-9704-9 PMID
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Matthias R. Baumgartner, Friederike Hörster, Carlo Dionisi-Vici, Goknur Haliloglu, Daniela Karall, Kimberly A. Chapman, Martina Huemer, Michel Hochuli, Murielle Assoun, Diana Ballhausen, Alberto Burlina, Brian Fowler, Sarah C. Grünert, Stephanie Grünewald, Tomas Honzik, Begoña Merinero, Celia Pérez-Cerdá, Sabine Scholl-Bürgi, Flemming Skovby, Frits Wijburg, Anita MacDonald, Diego Martinelli, Jörn Oliver Sass, Vassili Valayannopoulos, Anupam Chakrapani:
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
doi:10.1186/s13023-014-0130-8 PMID
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2013
Saskia B. Wortmann, Leo A. J. Kluijtmans, Richard J. Rodenburg, Jörn Oliver Sass, Jessica Nouws, Edwin P. van Kaauwen, Tjitske Kleefstra, Lisbeth Tranebjaerg, Maaike C. de Vries, Pirjo Isohanni, Katharina Walter, Fowzan S. Alkuraya, Izelle Smuts, Carolus J. Reinecke, Francois H. van der Westhuizen, David Thorburn, Jan A. M. Smeitink, Eva Morava, Ron A. Wevers:
3-Methylglutaconic aciduria--lessons from 50 genes and 977 patients.
doi:10.1007/s10545-012-9579-6 PMID
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Naeem Shafqat, Kate L. Kavanagh, Jörn Oliver Sass, Ernst Christensen, Toshiyuki Fukao, Wen Hwa Lee, Udo Oppermann, Wyatt W. Yue:
A structural mapping of mutations causing succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
doi:10.1007/s10545-013-9589-z PMID
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Sander M. Houten, Heleen te Brinke, Simone Denis, Jos Pn Ruiter, Alida C. Knegt, Johannis Bc de Klerk, Persephone Augoustides-Savvopoulou, Johannes Häberle, Matthias R. Baumgartner, Turgay Coşkun, Johannes Zschocke, Jörn Oliver Sass, Bwee Tien Poll-The, Ronald Ja Wanders, Marinus Duran:
Genetic basis of hyperlysinemia.
doi:10.1186/1750-1172-8-57 PMID
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Sarah C. Grünert, Pablo Villavicencio-Lorini, Bendicht Wermuth, Willy Lehnert, Jörn Oliver Sass, K. Otfried Schwab:
Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management.
doi:10.1186/2251-6581-12-37 PMID
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Sarah C. Grünert, Stephanie Müllerleile, Linda de Silva, Michael Barth, Melanie Walter, Kerstin Walter, Thomas Meissner, Martin Lindner, Regina Ensenauer, René Santer, Olaf A. Bodamer, Matthias R. Baumgartner, Michaela Brunner-Krainz, Daniela Karall, Claudia Haase, Ina Knerr, Thorsten Marquardt, Julia B. Hennermann, Robert Steinfeld, Skadi Beblo, Hans-Georg Koch, Vassiliki Konstantopoulou, Sabine Scholl-Bürgi, Agnes van Teeffelen-Heithoff, Terttu Suormala, Wolfgang Sperl, Jan P. Kraus, Andrea Superti-Furga, Karl Otfried Schwab, Jörn Oliver Sass:
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
doi:10.1186/1750-1172-8-6 PMID
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Sarah C. Grünert, Corinna M. Brichta, Andreas Krebs, Hans-Willi Clement, Reinhold Rauh, Christian Fleischhaker, Klaus Hennighausen, Jörn Oliver Sass, K. Otfried Schwab:
Diurnal variation of phenylalanine and tyrosine concentrations in adult patients with phenylketonuria: subcutaneous microdialysis is no adequate tool for the determination of amino acid concentrations.
doi:10.1186/1475-2891-12-60 PMID
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Monica Del Rizzo, Alessandro P. Burlina, Jörn Oliver Sass, Frauke Beermann, Chiara Zanco, Chiara Cazzorla, Andrea Bordugo, Laura Giordano, Renzo Manara, Alberto B. Burlina:
Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency.
doi:10.1016/j.ymgme.2013.01.011 PMID
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2012
Michel van Weeghel, Heleen te Brinke, Henk van Lenthe, Wim Kulik, Paul E. Minkler, Maria S. K. Stoll, Jörn Oliver Sass, Uwe Janssen, Wilhelm Stoffel, K. Otfried Schwab, Ronald J. A. Wanders, Charles L. Hoppel, Sander M. Houten:
Functional redundancy of mitochondrial enoyl-CoA isomerases in the oxidation of unsaturated fatty acids.
doi:10.1096/fj.12-206326 PMID
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Carsten Speckmann, Carla Neumann, Stephan Borte, Giancarlo La Marca, Jörn Oliver Sass, Elisabeth Wiech, Paul Fisch, Klaus Schwarz, Bernd Buchholz, Michael Schlesier, Kerstin Felgentreff, Bodo Grimbacher, Ines Santisteban, Pawan Bali, Michael S. Hershfield, Stephan Ehl:
Delayed-onset adenosine deaminase deficiency: strategies for an early diagnosis.
doi:10.1016/j.jaci.2012.04.004 PMID
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Anke Sommer, Jörn Oliver Sass:
Expression of aspartoacylase (ASPA) and Canavan disease.
doi:10.1016/j.gene.2012.06.036 PMID
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Sabine Scholl-Bürgi, Jörn Oliver Sass, Johannes Zschocke, Daniela Karall:
Amino acid metabolism in patients with propionic acidaemia.
doi:10.1007/s10545-010-9245-9 PMID
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Jörn Oliver Sass, Melanie Walter, Julian P. H. Shield, Andrea M. Atherton, Uttam Garg, David Scott, C. Geoffrey Woods, Laurie D. Smith:
3-Hydroxyisobutyrate aciduria and mutations in the ALDH6A1 gene coding for methylmalonate semialdehyde dehydrogenase.
doi:10.1007/s10545-011-9381-x PMID
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Jörn Oliver Sass:
Inborn errors of ketogenesis and ketone body utilization.
doi:10.1007/s10545-011-9324-6 PMID
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Jörn Oliver Sass:
Disorders of the degradation of branched chain amino acids: what is new in clinics and laboratories?.
doi:10.1007/s10545-011-9420-7 PMID
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Makiko Nakamura, Yamaguchi Yuichiro, Jörn Oliver Sass, Matsumura Tomohiro, Karl Otfried Schwab, Nishino Takeshi, Hosoya Tatsuo, Kimiyoshi Ichida:
Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child.
doi:10.1016/j.cca.2012.08.011 PMID
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J. P. Kraus, E. Spector, S. Venezia, P. Estes, P. W. Chiang, G. Creadon-Swindell, S. Müllerleile, L. de Silva, M. Barth, M. Walter, K. Walter, T. Meissner, M. Lindner, R. Ensenauer, R. Santer, O. A. Bodamer, M. R. Baumgartner, M. Brunner-Krainz, D. Karall, C. Haase, I. Knerr, T. Marquardt, J. B. Hennermann, R. Steinfeld, S. Beblo, H. G. Koch, V. Konstantopoulou, S. Scholl-Bürgi, A. van Teeffelen-Heithoff, T. Suormala, M. Ugarte, W. Sperl, A. Superti-Furga, K. O. Schwab, S. C. Grünert, J. O. Sass:
Mutation analysis in 54 propionic acidemia patients.
doi:10.1007/s10545-011-9399-0 PMID
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Sarah Catharina Grünert, Karl Otfried Schwab, Martin Pohl, Jörn Oliver Sass, René Santer:
Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype.
doi:10.1016/j.ymgme.2011.11.200 PMID
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S. C. Grünert, S. Müllerleile, L. de Silva, M. Barth, M. Walter, K. Walter, T. Meissner, M. Lindner, R. Ensenauer, R. Santer, O. A. Bodamer, M. R. Baumgartner, M. Brunner-Krainz, D. Karall, C. Haase, I. Knerr, T. Marquardt, J. B. Hennermann, R. Steinfeld, S. Beblo, H. G. Koch, V. Konstantopoulou, S. Scholl-Bürgi, A. van Teeffelen-Heithoff, T. Suormala, W. Sperl, J. P. Kraus, A. Superti-Furga, K. O. Schwab, J. O. Sass:
Propionic acidemia: neonatal versus selective metabolic screening.
doi:10.1007/s10545-011-9419-0 PMID
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M. Binder, M. Uhl, T. Wiech, F. Kollert, J. Thiel, J. O. Sass, U. A. Walker, H. H. Peter, K. Warnatz:
Cyclophosphamide is a highly effective and safe induction therapy in chronic periaortitis: a long-term follow-up of 35 patients with chronic periaortitis.
doi:10.1136/annrheumdis-2011-200148 PMID
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Abdel Ali Belaidi, Sita Arjune, Jose Angel Santamaria-Araujo, Jörn Oliver Sass, Guenter Schwarz:
Molybdenum cofactor deficiency: a new HPLC method for fast quantification of s-sulfocysteine in urine and serum.
doi:10.1007/8904_2011_89 PMID
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2011
Lisenka E. L. M. Vissers, Virginia Fano, Diego Martinelli, Belinda Campos-Xavier, Domenico Barbuti, Tae-Joon Cho, Ahmet Dursun, Ok Hwa Kim, Sun Hee Lee, Giuseppina Timpani, Gen Nishimura, Sheila Unger, Jörn Oliver Sass, Joris A. Veltman, Han G. Brunner, Luisa Bonafé, Carlo Dionisi-Vici, Andrea Superti-Furga:
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).
doi:10.1002/ajmg.a.34325 PMID
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Anke Sommer, Ernst Christensen, Susanne Schwenger, Ralf Seul, Dorothea Haas, Heike Olbrich, Heymut Omran, Jörn Oliver Sass:
The molecular basis of aminoacylase 1 deficiency.
doi:10.1016/j.bbadis.2011.03.005 PMID
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Jörn Oliver Sass:
Selective screening for inborn errors of metabolism--assessment of metabolites in body fluids.
doi:10.1016/j.clinbiochem.2011.03.017 PMID
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Sarah Catharina Grünert, Brian Fowler, Andrea Superti-Furga, Jörn Oliver Sass, Karl Otfried Schwab:
Hyperpyrexia resulting in encephalopathy in a 14-month-old patient with cblC disease.
doi:10.1016/j.braindev.2010.07.012 PMID
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Toshiyuki Fukao, Jörn Oliver Sass, Petri Kursula, Eva Thimm, Udo Wendel, Can Ficicioglu, Kamel Monastiri, Nathalie Guffon, Ivo Barić, Marie-Therese Zabot, Naomi Kondo:
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency.
doi:10.1016/j.bbadis.2011.01.015 PMID
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2010
André B. P. van Kuilenburg, Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, Jean-François Benoist, Birgit Assmann, Susanne Schubert, Georg F. Hoffmann, Marinus Duran, Maaike C. de Vries, Gerd Kurlemann, François J. M. Eyskens, Lawrence Greed, Jörn Oliver Sass, K. Otfried Schwab, Adrian C. Sewell, John Walter, Andreas Hahn, Lida Zoetekouw, Antonia Ribes, Suzanne Lind, Raoul C. M. Hennekam:
Dihydropyrimidinase deficiency: Phenotype, genotype and structural consequences in 17 patients.
doi:10.1016/j.bbadis.2010.03.013 PMID
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A. B. P. van Kuilenburg, J. Meijer, G. Gökcay, T. Baykal, M. E. Rubio-Gozalbo, A. N. P. M. Mul, C. E. M. de Die-Smulders, P. Weber, A. Capone Mori, J. Bierau, B. Fowler, K. Macke, J. O. Sass, R. Meinsma, J. B. Hennermann, P. Miny, L. Zoetekouw, J. Roelofsen, R. Vijzelaar, J. Nicolai, R. C. M. Hennekam:
Dihydropyrimidine Dehydrogenase Deficiency Caused by a Novel Genomic Deletion c.505_513del of DPYD.
doi:10.1080/15257771003730227 PMID
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Anna Tylki-Szymanska, Wanda Gradowska, Anke Sommer, Angelina Heer, Melanie Walter, Christina Reinhard, Heymut Omran, Jörn Oliver Sass, Agnieszka Jurecka:
Aminoacylase 1 deficiency associated with autistic behavior.
doi:10.1007/s10545-010-9089-3 PMID
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Sabine Scholl-Bürgi, Jörn Oliver Sass, Peter Heinz-Erian, Edda Amann, Edda Haberlandt, Ursula Albrecht, Claudia Ertl, Sara Baumgartner Sigl, Florian Lagler, Kevin Rostasy, Daniela Karall:
Changes in plasma amino acid concentrations with increasing age in patients with propionic acidemia.
doi:10.1007/s00726-009-0356-2 PMID
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Jörn Oliver Sass, Aysegul Gunduz, Carolina Araujo Rodrigues Funayama, Baris Korkmaz, Kylvia Giselle Dantas Pinto, Beyhan Tuysuz, Letícia Yanasse Dos Santos, Emine Taskiran, Marlene de Fátima Turcato, Ching-Wan Lam, Jochen Reiss, Melanie Walter, Cengiz Yalcinkaya, José Simon Camelo Junior:
Functional deficiencies of sulfite oxidase: Differential diagnoses in neonates presenting with intractable seizures and cystic encephalomalacia.
doi:10.1016/j.braindev.2009.09.005 PMID
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Jörn Oliver Sass, Kathleen Fischer, Raymond Wang, Ernst Christensen, Sabine Scholl-Bürgi, Richard Chang, Klaus Kapelari, Melanie Walter:
D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK).
doi:10.1002/humu.21375 PMID
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Katharina Rauschenberger, Katja Schöler, Jörn Oliver Sass, Sven Sauer, Zdenka Djuric, Cordula Rumig, Nicole I. Wolf, Jürgen G. Okun, Stefan Kölker, Heinz Schwarz, Christine Fischer, Beate Grziwa, Heiko Runz, Astrid Nümann, Naeem Shafqat, Kathryn L. Kavanagh, Günter Hämmerling, Ronald J. A. Wanders, Julian P. H. Shield, Udo Wendel, David Stern, Peter Nawroth, Georg F. Hoffmann, Claus R. Bartram, Bernd Arnold, Angelika Bierhaus, Udo Oppermann, Herbert Steinbeisser, Johannes Zschocke:
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival.
doi:10.1002/emmm.200900055 PMID
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Manuela Popek, Melanie Walter, Malkanthi Fernando, Martin Lindner, Karl Otfried Schwab, Jörn Oliver Sass:
Two inborn errors of metabolism in a newborn: glutaric aciduria type I combined with isobutyrylglycinuria.
doi:10.1016/j.cca.2010.09.006 PMID
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N. Janzen, S. Sander, M. Terhardt, A. M. Das, J. O. Sass, R. Kraetzner, H. Rosewich, H. Rosevich, M. Peter, J. Sander:
Rapid quantification of conjugated and unconjugated bile acids and C27 precursors in dried blood spots and small volumes of serum.
doi:10.1194/jlr.D003814 PMID
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I. Höliner, B. Simma, A. Reiter, J. O. Sass, J. Zschocke, M. Huemer:
Compliance to clinical guidelines determines outcome in glutaric aciduria type I in the era of newborn screening.
doi:10.1055/s-0029-1239525 PMID
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Sarah Grünert, Miriam Schmidts, Sybille Kenzel, Jörn Oliver Sass, Peter Greiner, Martin Pohl, Roland Hentschel:
D-lactic acidosis: "right-left disorientation" in laboratory testing: acute encephalopathy in a child with carbohydrate malabsorption syndrome.
doi:10.1097/MPG.0b013e3181c48cde PMID
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2009
André B. P. van Kuilenburg, Judith Meijer, Adri N. P. M. Mul, Raoul C. M. Hennekam, Jan M. N. Hoovers, Christine E. M. de Die-Smulders, Peter Weber, Andrea Capone Mori, Jörgen Bierau, Brian Fowler, Klaus Macke, Jörn Oliver Sass, Rutger Meinsma, Julia B. Hennermann, Peter Miny, Lida Zoetekouw, Raymon Vijzelaar, Joost Nicolai, Bauke Ylstra, M. Estela Rubio-Gozalbo:
Analysis of severely affected patients with dihydropyrimidine dehydrogenase deficiency reveals large intragenic rearrangements of DPYD and a de novo interstitial deletion del(1)(p13.3p21.3).
doi:10.1007/s00439-009-0653-6 PMID
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Jörn Oliver Sass, Janet S. Romrell, Sarah Y. Vinson, Hubert H. Fernandez, Judith Fischer, Ramon L. Rodriguez, Michael S. Okun:
Tracing the origin of L-2-hydroxyglutaric aciduria in a family.
doi:10.1080/00207450903139655 PMID
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Hala Mégarbané, Jobard Florence, Jörn Oliver Sass, Susanne Schwonbeck, Mario Foglio, Rafael de Cid, Susan Cure, Safa Saker, André Mégarbané, Judith Fischer:
An autosomal-recessive form of cutis laxa is due to homozygous elastin mutations, and the phenotype may be modified by a heterozygous fibulin 5 polymorphism.
doi:10.1038/jid.2008.450 PMID
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G. Haliloglu, C. M. Temucin, K. K. Oguz, A. Celiker, T. Coskun, J. O. Sass, J. Fischer, M. Topcu:
Peripheral neuropathy in a patient with D-2-hydroxyglutaric aciduria.
doi:10.1007/s10545-009-0933-2 PMID
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Berend Feddersen, Larissa de La Fontaine, Jörn Oliver Sass, Jurgen Lutz, Angela Abicht, Thomas Klopstock, Ishwar Chander Verma, Eva Meisenzahl, Oliver Pogarell:
Mitochondrial neurogastrointestinal encephalomyopathy mimicking anorexia nervosa.
doi:10.1176/appi.ajp.2008.08101525 PMID
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Afshin Borhani Haghighi, Ali Nabavizadeh, Jörn Oliver Sass, Anahid Safari, Kamran B. Lankarani:
Mitochondrial neurogastrointestinal encephalomyopathy.
PMID
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2008
S. Scholl-Bürgi, S. H. Korman, D. A. Applegarth, D. Karall, Y. Lillquist, P. Heinz-Erian, A. G. F. Davidson, E. Haberlandt, J. O. Sass:
The relation of cerebrospinal fluid and plasma glycine levels in propionic acidaemia, a 'ketotic hyperglycinaemia'.
doi:10.1007/s10545-008-0796-y PMID
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Jörn Oliver Sass, Regina Ensenauer, Wulf Röschinger, Horst Reich, Ulrike Steuerwald, Oliver Schirrmacher, Katharina Engel, Johannes Häberle, Brage Storstein Andresen, André Mégarbané, Willy Lehnert, Johannes Zschocke:
2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.
doi:10.1016/j.ymgme.2007.09.002 PMID
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J. O. Sass, F. Jobard, M. Topçu, A. Mahfoud, E. Werlé, S. Cure, N. Al-Sannaa, S. A. Alshahwan, M. Bataillard, L. Cimbalistiene, C. Grolik, V. Kemmerich, H. Omran, L. Sztriha, M. Tabache, J. Fischer:
L-2-hydroxyglutaric aciduria: identification of ten novel mutations in the L2HGDH gene.
doi:10.1007/s10545-008-0855-4 PMID
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G. Haliloglu, F. Jobard, K. K. Oguz, B. Anlar, N. Akalan, T. Coskun, J. O. Sass, J. Fischer, M. Topcu:
L-2-hydroxyglutaric aciduria and brain tumors in children with mutations in the L2HGDH gene: neuroimaging findings.
doi:10.1055/s-2008-1081217 PMID
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Udo F. H. Engelke, Jörn Oliver Sass, Rudy N. van Coster, Erik Gerlo, Heike Olbrich, Stefan Krywawych, Jacqui Calvin, Claire Hart, Heymut Omran, Ron A. Wevers:
NMR spectroscopy of aminoacylase 1 deficiency, a novel inborn error of metabolism.
doi:10.1002/nbm.1170 PMID
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2007
J. O. Sass, H. Olbrich, V. Mohr, C. Hart, B. Woldseth, S. Krywawych, B. Bjurulf, P. K. Lakhani, R. M. Buchdahl, H. Omran:
Neurological findings in aminoacylase 1 deficiency.
doi:10.1212/01.wnl.0000264933.56204.e8 PMID
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Daniela Baumgartner, Sabine Scholl-Bürgi, Jörn Oliver Sass, Wolfgang Sperl, Ulrich Schweigmann, Jörg-Ingolf Stein, Daniela Karall:
Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia.
doi:10.1016/j.jpeds.2006.11.043 PMID
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2006
Jörn Oliver Sass:
Laboratory diagnosis of sulphite oxidase deficiency.
doi:10.1007/s00431-006-0122-3 PMID
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Jörn Oliver Sass, Verena Mohr, Heike Olbrich, Udo Engelke, Judit Horvath, Manfred Fliegauf, Niki Tomas Loges, Susanne Schweitzer-Krantz, Ralf Moebus, Polly Weiler, Andreas Kispert, Andrea Superti-Furga, Ron A. Wevers, Heymut Omran:
Mutations in ACY1, the gene encoding aminoacylase 1, cause a novel inborn error of metabolism.
doi:10.1086/500563 PMID
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Ronny Jung, Anita Rauch, Gajja S. Salomons, Nanda M. Verhoeven, Cornelis Jakobs, K. Michael Gibson, Ehrenfried Lachmann, Jörn Oliver Sass, Udo Trautmann, Christiane Zweier, Gundula Staatz, Ina Knerr:
Clinical, cytogenetic and molecular characterization of a patient with combined succinic semialdehyde dehydrogenase deficiency and incomplete WAGR syndrome with obesity.
doi:10.1016/j.ymgme.2006.02.003 PMID
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Susen Hartmann, Jürgen G. Okun, Christiane Schmidt, Claus-Dieter Langhans, Sven F. Garbade, Peter Burgard, Dorothea Haas, Jörn Oliver Sass, William L. Nyhan, Georg F. Hoffmann:
Comprehensive detection of disorders of purine and pyrimidine metabolism by HPLC with electrospray ionization tandem mass spectrometry.
doi:10.1373/clinchem.2005.058842 PMID
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2005
U. Tacke, H. Olbrich, J. O. Sass, A. Fekete, J. Horvath, S. Ziyeh, W. J. Kleijer, M-O Rolland, S. Fisher, S. Payne, E. Vargiami, D. I. Zafeiriou, H. Omran:
Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease.
doi:10.1055/s-2005-865865 PMID
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Jörn Oliver Sass, Andrea Superti-Furga:
Gamma-hydroxybutyric acid.
doi:10.1056/NEJMc052046 PMID
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Jochen Reiss, Michael Bonin, Herbert Schwegler, Jörn Oliver Sass, Enrico Garattini, Silke Wagner, Heon-Jin Lee, Wolfgang Engel, Olaf Riess, Günter Schwarz:
The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis.
doi:10.1016/j.ymgme.2005.01.008 PMID
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Willy Lehnert, Jörn Oliver Sass:
Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I).
doi:10.1016/j.mehy.2005.02.021 PMID
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Martina Huemer, Burkhard Simma, Brian Fowler, Terttu Suormala, Olaf A. Bodamer, Jörn Oliver Sass:
Prenatal and postnatal treatment in cobalamin C defect.
doi:10.1016/j.jpeds.2005.04.040 PMID
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Maria Haller, Angelika Henzler-Le Boulanger, Jörn Oliver Sass, Matthias Brandis, Lothar Bernd Zimmerhackl:
Successful extracorporeal treatment of a male with hyperammonaemic coma.
doi:10.1093/ndt/gfh495 PMID
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2004
Damayanti R. Sjarif, Christina Hellerud, Johannes K. Ploos van Amstel, Willem J. Kleijer, Wolfgang Sperl, Didier Lacombe, Jörn Oliver Sass, Frits A. Beemer, Marinus Duran, Bwee Tien Poll-The:
Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation.
doi:10.1038/sj.ejhg.5201172 PMID
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Günter Schwarz, José Angel Santamaria-Araujo, Stefan Wolf, Heon-Jin Lee, Ibrahim M. Adham, Hermann-Josef Gröne, Herbert Schwegler, Jörn Oliver Sass, Tanja Otte, Petra Hänzelmann, Ralf R. Mendel, Wolfgang Engel, Jochen Reiss:
Rescue of lethal molybdenum cofactor deficiency by a biosynthetic precursor from Escherichia coli.
doi:10.1093/hmg/ddh136 PMID
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Jörn Oliver Sass, Toyofumi Nakanishi, Takako Sato, Akira Shimizu:
New approaches towards laboratory diagnosis of isolated sulphite oxidase deficiency.
doi:10.1258/000456304322880078 PMID
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Jörn Oliver Sass, Rosemarie Forstner, Wolfgang Sperl:
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease.
doi:10.1016/S0387-7604(03)00071-8 PMID
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J. O. Sass, D. Skladal, B. Zelger, N. Romani, B. Utermann:
Trichothiodystrophy: quantification of cysteine in human hair and nails by application of sodium azide-dependent oxidation to cysteic acid.
doi:10.1007/s00403-004-0483-2 PMID
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J. O. Sass, S. Sander, J. Zschocke:
Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants.
doi:10.1023/B:BOLI.0000045798.12425.1b PMID
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J. O. Sass, M. Hofmann, D. Skladal, E. Mayatepek, B. Schwahn, W. Sperl:
Propionic acidemia revisited: a workshop report.
doi:10.1177/000992280404300908 PMID
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Regina Ensenauer, Jerry Vockley, Jan-Marie Willard, Joseph C. Huey, Jörn Oliver Sass, Steven D. Edland, Barbara K. Burton, Susan A. Berry, René Santer, Sarah Grünert, Hans-Georg Koch, Iris Marquardt, Piero Rinaldo, Sihoun Hahn, Dietrich Matern:
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
doi:10.1086/426318 PMID
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2003
Jörn Oliver Sass, Toyofumi Nakanishi, Takako Sato, Wolfgang Sperl, Akira Shimizu:
S-homocysteinylation of transthyretin is detected in plasma and serum of humans with different types of hyperhomocysteinemia.
doi:10.1016/j.bbrc.2003.08.089 PMID
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J. O. Sass, M. Kishikawa, R. Puttinger, J. Reiss, W. Erwa, A. Shimizu, W. Sperl:
Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency.
doi:10.1023/A:1024091900547 PMID
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Rob Ofman, Jos P. N. Ruiter, Marike Feenstra, Marinus Duran, Bwee Tien Poll-The, Johannes Zschocke, Regina Ensenauer, Willy Lehnert, Jörn Oliver Sass, Wolfgang Sperl, Ronald J. A. Wanders:
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency is caused by mutations in the HADH2 gene.
URL PMID doi:10.1086/375116
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2002
Jörn Oliver Sass, Sara Pascoe-González, Willy Lehnert:
Screening in clinical trials.
doi:10.1016/S0140-6736(02)11058-0 PMID
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Heon-Jin Lee, Ibrahim M. Adham, Günter Schwarz, Matthias Kneussel, Jörn O. Sass, Wolfgang Engel, Jochen Reiss:
Molybdenum cofactor-deficient mice resemble the phenotype of human patients.
doi:10.1093/hmg/11.26.3309 PMID
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Masahiko Kishikawa, Jörn Oliver Sass, Nobuo Sakura, Toyofumi Nakanishi, Akira Shimizu, Masanori Yoshioka:
The peak height ratio of S-sulfonated transthyretin and other oxidized isoforms as a marker for molybdenum cofactor deficiency, measured by electrospray ionization mass spectrometry.
doi:10.1016/S0925-4439(02)00156-4 PMID
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2001
J. O. Sass, W. Sperl, C. Bachmann:
Treatment of neonatal hyperammonaemia.
doi:10.1016/S0140-6736(01)06746-0 PMID
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Jörn Oliver Sass, Daniela Skladal, Stephan Felber:
Update on white matter genetic disorders.
doi:10.1016/S0887-8994(01)00341-1 PMID
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J. O. Sass, P. Heinz-Erian, W. Högler:
Increased CSF cortisol in AD is a function of APOE genotype.
doi:10.1212/WNL.57.8.1522-a PMID
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J. O. Sass, R. Crazzolara, P. Heinz-Erian:
Mechanisms of brain injury in infantile child abuse.
doi:10.1016/S0140-6736(01)07116-1 PMID
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Ralph Rühl, Jörn Sass, Heinz Nau, Stephan Klug:
Effects of all-trans-retinoic acid and all-trans-retinoyl glucuronide in two in vitro systems of distinct biological complexity.
doi:10.1007/s002040100257 PMID
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2000
W. Sperl, C. Murr, D. Skladal, J. O. Sass, T. Suormala, R. Baumgartner, U. Wendel:
Odd-numbered long-chain fatty acids in propionic acidaemia.
doi:10.1007/s004310050010 PMID
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D. Skladal, J. O. Sass, H. Geiger, R. Geiger, C. Mann, P. Vreken, R. J. Wanders, R. Trawöger:
Complications in early diagnosis and treatment of two infants with long-chain fatty acid beta-oxidation defects.
URL PMID
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J. O. Sass, D. Skladal:
Plasma leptin in prepubertal patients with glycogen storage diseases.
doi:10.1055/s-2007-978585 PMID
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J. O. Sass, D. Skladal:
Elevated plasma bile acid concentrations in two sisters with tyrosinaemia type I.
doi:10.1046/j.1440-1754.2000.00455.x PMID
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J. O. Sass, J. Padberg:
Human isotretinoin metabolism during indinavir therapy.
doi:10.1089/08892220050141008 PMID
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J. O. Sass, B. Jakob-Sölder, A. Heitger, G. Tzimas, M. Sarcletti:
Paronychia with pyogenic granuloma in a child treated with indinavir: the retinoid-mediated side effect theory revisited.
doi:10.1159/000018313 PMID
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J. O. Sass, T. Arnhold, G. Tzimas, D. M. Jacobson:
Serum vitamin A is elevated in idiopathic intracranial hypertension.
doi:10.1212/WNL.54.11.2192 PMID
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WenChieh Chen, Jörn Oliver Sass, Holger Seltmann, Heinz Nau, Constantin E. Orfanos, Christos C. Zouboulis:
Biological effects and metabolism of 9-cis-retinoic acid and its metabolite 9,13-di-cis-retinoic acid in HaCaT keratinocytes in vitro: comparison with all-trans-retinoic acid.
doi:10.1007/s004030000189 PMID
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1999
Christos C. Zouboulis, Holger Seltmann, Jörn Oliver Sass, Ralph Rühl, Claudia Plum, Uwe Hettmannsperger, Ulrike Blume-Peytavi, Heinz Nau, Constantin E. Orfanos:
Retinoid signaling by all-trans retinoic acid and all-trans retinoyl-beta-D-glucuronide is attenuated by simultaneous exposure of human keratinocytes to retinol.
doi:10.1046/j.1523-1747.1999.00496.x PMID
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Jörn Oliver Sass, Georg Tzimas, Mohamed M.A. Elmazar, Heinz Nau:
Metabolism of Retinaldehyde Isomers in Pregnant Rats: 13-cis- and all-trans-Retinaldehyde, but not 9-cis-Retinaldehyde, Yield Very Similar Patterns of Retinoid Metabolites.
PMID URL
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J. O. Sass, D. Skladal, E. Viertler:
Methionine loading in a Down's syndrome patient with cerebral infarction.
doi:10.1177/000456329903600225 PMID
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Jörn Oliver Sass, Daniela Skladal, Michaela Brunner-Krainz:
Normal ascorbic acid in cerebrospinal fluid of patients with infantile neuronal ceroid-lipofuscinosis.
doi:10.1023/A:1020613631353 PMID
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Jörn Oliver Sass, Daniela Skladal:
Plasma concentrations and renal clearance of orotic acid in argininosuccinic acid synthetase deficiency.
doi:10.1007/s004670050726 PMID
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Silvia Muro, Pilar Rodríguez‐Pombo, Belén Pérez, Celia Pérez‐Cerdá, Lourdes R. Desviat, Wolfgang Sperl, Daniela Skladal, Jörn Oliver Sass, Magdalena Ugarte:
Identification of novel mutations in the PCCB gene in European propionic acidemia patients.
doi:10.1002/(SICI)1098-1004(1999)14:1<89::AID-HUMU18>3.0.CO;2-5 PMID
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L. Didierjean, J. O. Sass, P. Carraux, D. Grand, O. Sorg, C. Plum, H. Nau, J. H. Saurat:
Topical 9-cis-retinaldehyde for delivery of 9-cis-retinoic acid in mouse skin.
doi:10.1111/j.1600-0625.1999.tb00371.x PMID
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1997
Jörn Oliver Sass, Bernd Zimmermann, Ralph Rühl, Heinz Nau:
Effects of all-trans-retinoyl-beta-D-glucuronide and all-trans-retinoic acid on chondrogenesis and retinoid metabolism in mouse limb bud mesenchymal cells in vitro.
doi:10.1007/s002040050368 PMID
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Jörn Oliver Sass, Georg Tzimas, Heinz Nau:
9,13-Dicis-retinoic acid as an isomerization product of 9-cis-retinoic acid.
PMID URL
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Jörn Oliver Sass, Wolf Endres:
Quantitation of total homocysteine in human plasma by derivatization to its N(O,S)-propoxycarbonyl propyl ester and gas chromatography-mass spectrometry analysis.
doi:10.1016/S0378-4347(97)00080-7 PMID
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1996
J. O. Sass, E. Masgrau, P. A. Piletta, H. Nau, J. H. Saurat:
Plasma retinoids after topical use of retinaldehyde on human skin.
doi:10.1159/000211436 PMID
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J. O. Sass, L. Didierjean, P. Carraux, C. Plum, H. Nau, J. H. Saurat:
Metabolism of topical retinaldehyde and retinol by mouse skin in vivo: predominant formation of retinyl esters and identification of 14-hydroxy-4, 14-retro-retinol.
doi:10.1111/j.1600-0625.1996.tb00128.x PMID
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H. Nau, M. M. Elmazar, R. Rühl, R. Thiel, J. O. Sass:
All-trans-retinoyl-beta-glucuronide is a potent teratogen in the mouse because of extensive metabolism to all-trans-retinoic acid.
doi:10.1002/(SICI)1096-9926(199609)54:3<150::AID-TERA5>3.0.CO;2-7 PMID
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M. Foerster, J. O. Sass, R. Rühl, H. Nau:
Comparative studies on effects of all-trans-retinoic acid and all-trans-retinoyl-beta-d-glucuronide on the development of foetal mouse thymus in an organ culture system.
doi:10.1016/0887-2333(95)00094-1 PMID
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Liliane Didierjean, Pierre Carraux, Denise Grand, Jörn Oliver Sass, Heinz Nau, Jean-Hilaire Saurat:
Topical retinaldehyde increases skin content of retinoic acid and exerts biologic activity in mouse skin.
doi:10.1111/1523-1747.ep12365603 PMID
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1995
J. O. Sass, J. Hartmann, I. Chahoud, B. Shroot, H. Nau:
Transplacental pharmacokinetics of a synthetic retinoid which is not bound by mouse embryonic cellular retinoic acid-binding protein.
doi:10.1016/0378-4274(94)03175-7 PMID
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1994
G. Tzimas, J. O. Sass, W. Wittfoht, M. M. Elmazar, K. Ehlers, H. Nau:
Identification of 9,13-dicis-retinoic acid as a major plasma metabolite of 9-cis-retinoic acid and limited transfer of 9-cis-retinoic acid and 9,13-dicis-retinoic acid to the mouse and rat embryos.
URL PMID
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William J. Scott Jr., Rosemarie Walter, Georg Tzimas, Jörn Oliver Sass, Heinz Nau, Michael D. Collins:
Endogenous Status of Retinoids and Their Cytosolic Binding Proteins in Limb Buds of Chick vs Mouse Embryos.
doi:10.1006/dbio.1994.1262 PMID
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Jörn Oliver Sass, Georg Tzimas, Heinz Nau:
9-cis-retinoyl-beta-D-glucuronide is a major metabolite of 9-cis-retinoic acid.
doi:10.1016/0024-3205(94)00703-9 PMID
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Jörn Oliver Sass, Heinz Nau:
Single-run analysis of isomers of retinoyl-β-D-glucuronide and retinoic acid by reversed-phase high-performance liquid chromatography.
doi:10.1016/0021-9673(94)00829-9 PMID
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J. O. Sass, A. Forster, K. W. Bock, H. Nau:
Glucuronidation and isomerization of all-trans- and 13-cis-retinoic acid by liver microsomes of phenobarbital- or 3-methylcholanthrene-treated rats.
doi:10.1016/0006-2952(94)90179-1 PMID
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Jörn Oliver Sass:
3,4-Didehydroretinol may be present in human embryos/fetuses.
doi:10.1016/0890-6238(94)90024-8 PMID
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