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. In: Journal of Inherited Metabolic Disease, 47(4), 2024, S. 598-623
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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. In: Free Radical Biology and Medicine, Vol.208, 128, 2023, S. S63
doi:10.1016/j.freeradbiomed.2023.10.142 BibTeX | RIS

Jörn Oliver Sass, Birutė Skerlienė: In memoriam Willy Lehnert. In: Journal of Inherited Metabolic Disease, 2023
doi:10.1002/jimd.12686 PMID BibTeX | RIS

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. In: Biochemical and Biophysical Research Communications, Vol.684, 149123, 2023
doi:10.1016/j.bbrc.2023.149123 PMID BibTeX | RIS

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. In: Neurochemistry International, Vol.171, 105631, 2023
doi:10.1016/j.neuint.2023.105631 PMID BibTeX | RIS

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. In: Computational and Structural Biotechnology Journal, Vol.21, 2023, S. 1236-1248
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Jörn Oliver Sass, Daniel Schulke: Intracellular localization of Glycine N-acyltransferase-like protein 1 (GLYATL1). In: Monatsschrift Kinderheilkunde, 171(Supplement issue 1), P07, 2023, S. S36
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Daniel Schulke, Jana C. Hollenbeck, Lil Klaas, Jörn Oliver Sass: Funktionale Gen-Analytik: Angeborenen Stoffwechselstörungen auf der Spur. In: GIT Labor-Fachzeitschrift, 66(4), 2022, S. 31-33
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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. In: Journal of Inherited Metabolic Disease, 45(3), 2022, S. 445-455
doi:10.1002/jimd.12486 PMID BibTeX | RIS

Jörn Oliver Sass, Sarah C. Grünert: Disorders of Ketone Body Metabolism and Transport. In: Blau, Dionisi Vici et al. (Eds.): Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases, Cham: Springer International Publishing, 2022, S. 967-980
doi:10.1007/978-3-030-67727-5_50 BibTeX | RIS

Nicola Longo, Jörn Oliver Sass, Agnieszka Jurecka, Jerry Vockley: Biomarkers for drug development in propionic and methylmalonic acidemias. In: Journal of Inherited Metabolic Disease, 45(2), 2022, S. 132-143
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Sarah C. Grünert, Jörn Oliver Sass: Correction to: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces. In: Orphanet Journal of Rare Diseases, 17(1), 16, 2022
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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. In: Molecular Genetics and Metabolism Reports, Vol.29, 100827, 2021
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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?. In: Journal of Pediatric Endocrinology & Metabolism, 35(2), 2021, S. 169-178
doi:10.1515/jpem-2021-0104 PMID BibTeX | RIS

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. In: Monatsschrift Kinderheilkunde, 170(Suppl1), S13, 2021
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D. Schulke, J. Sass: Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism. In: Monatsschrift Kinderheilkunde, 170(Suppl1), S14, 2021
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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. In: Monatsschrift Kinderheilkunde, 170(Suppl1), 2021, S. S7-S8
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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. In: Journal of Inherited Metabolic Disease, 44(6), 2021, S. 1323-1329
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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. In: Journal of Inherited Metabolic Disease, 44(4), 2021, S. 1039-1050
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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. In: Biochimie, 183(April 2021), 2021, S. 55-62
doi:10.1016/j.biochi.2021.02.003 PMID BibTeX | RIS

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. In: Journal of Inherited Metabolic Disease, 44(3), 2021, S. 566-592
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Daniel Schulke, Jörn Oliver Sass: Frequent sequence variants of human glycine N-acyltransferase (GLYAT) and inborn errors of metabolism. In: Biochimie, 183(April 2021), 2021, S. 30-34
doi:10.1016/j.biochi.2021.02.002 PMID BibTeX | RIS

Jörn Oliver Sass, Sarah C. Grünert: Impaired ketone body utilisation as a cause of life-threatening ketoacidosis. In: Postgraduate Medical Journal, 98(1161), e21, 2021
doi:10.1136/postgradmedj-2021-139710 PMID BibTeX | RIS

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. In: Ophthalmic Genetics, 42(1), 2021, S. 75-78
doi:10.1080/13816810.2020.1827441 PMID BibTeX | RIS

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. In: Experimental and Clinical Endocrinology & Diabetes, 128(12), 2020, S. 819-826
doi:10.1055/a-1027-6620 PMID BibTeX | RIS

Grant A. Mitchell, Hideo Sasai, Jean Bastin, Jörn Oliver Sass, Ronald Ja Wanders, Seiji Yamaguchi: Toshiyuki Fukao. In: Journal of Inherited Metabolic Disease, 43(6), 2020, S. 1392
doi:10.1002/jimd.12308 BibTeX | RIS

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. In: Molecular Genetics and Metabolism, 131(3), 2020, S. 285-288
doi:10.1016/j.ymgme.2020.09.004 PMID URL BibTeX | RIS

Jörn Oliver Sass: Labordiagnostik bei angeborenen Stoffwechselstörungen. In: Monatsschrift Kinderheilkunde, 168(9), 2020, S. 777-785
doi:10.1007/s00112-020-00938-4 BibTeX | RIS

Sarah C. Grünert, Jörn Oliver Sass: 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways. In: Orphanet Journal of Rare Diseases, 15(106), 2020
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Sarah C. Grünert, Jörn Oliver Sass: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces. In: Orphanet Journal of Rare Diseases, Vol.15, 48, 2020
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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. In: Brain and Development, 42(2), 2020, S. 226-230
doi:10.1016/j.braindev.2019.11.008 PMID BibTeX | RIS

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. In: Metabolic Brain Disease, 34(6), 2019, S. 1629-1634
doi:10.1007/s11011-019-00470-9 PMID BibTeX | RIS

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. In: Monatsschrift Kinderheilkunde, 167(4), 2019, S. 373
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Jörn Oliver Sass, Ina Knerr: Aspartoacylase Deficiency (Canavan Disease, N-Acetylaspartic Aciduria). In: Oohashi, Tsukahara et al. (Eds.): Human Pathobiochemistry: From Clinical Studies to Molecular Mechanisms, Singapore: Springer, 2019, S. 15-21
doi:10.1007/978-981-13-2977-7_2 BibTeX | RIS

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. In: Molecular Genetics and Metabolism, 126(1), 2019, S. 64-76
doi:10.1016/j.ymgme.2018.10.004 PMID BibTeX | RIS

Ina Knerr, Laurie Bernstein, Ellen Crushell, Siobhan O’Sullivan, Jörn Oliver Sass: Amino Acids and Inherited Amino Acid-Related Disorders. In: Journal of Nutrition and Metabolism, Vol.2018, 5629454, 2018
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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. In: Journal of Inborn Errors of Metabolism and Screening, Vol.6, 2018, S. 1-4
PDF Download (CC BY 4.0) doi:10.1177/2326409818797361 urn:nbn:de:hbz:1044-opus-40285 BibTeX | RIS

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?. In: İzmir Dr. Behçet Uz Çocuk Hastanesi Dergisi, 8(2), 2018, S. 115-121
doi:10.5222/buchd.2018.115 BibTeX | RIS

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. In: Journal of Inborn Errors of Metabolism and Screening, Vol.6, 2018, S. 1-7
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A. Korwitz-Reichelt, M. Walter, J. O. Sass: Human D-glycerate kinase is a mitochondrial protein. In: Monatsschrift Kinderheilkunde, 166(4), 2018, S. 372
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L. Klaas, J. O. Sass: Deciphering novel functions of aminoacylases. In: Monatsschrift Kinderheilkunde, 166(4), 2018, S. 377
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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. In: Monatsschrift Kinderheilkunde, 166(4), 2018, S. 377
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Jörn Oliver Sass, Barbara Plecko-Startinig: Sulfite Oxidase Deficiency/Molybdenum Cofactor Deficiency and Epilepsy. In: Pearl (Ed.): Inherited Metabolic Epilepsies, 2nd Edition, New York: Demos, 2018, S. 394-400
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Jörn Oliver Sass, Sema Kalkan Uçar, Clara D.M. van Karnebeek: From rodent heart to inborn errors of human metabolism. In: Molecular Genetics and Metabolism, 123(3), 2018, S. 287-288
doi:10.1016/j.ymgme.2018.02.001 PMID BibTeX | RIS

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. In: Journal of Inherited Metabolic Disease, 41(2), 2018, S. 187-196
doi:10.1007/s10545-018-0138-7 PMID BibTeX | RIS

Gonca Kılıç-Yıldırım, Sultan Durmuş-Aydoğdu, Serdar Ceylaner, Jörn Oliver Sass: Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis. In: The Turkish Journal of Pediatrics, 59(4), 2017, S. 471-474
doi:10.24953/turkjped.2017.04.016 PMID BibTeX | RIS

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. In: Nature Genetics, 50(1), 2017, S. 120-129
doi:10.1038/s41588-017-0006-7 PMID URL BibTeX | RIS

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. In: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1863(12), 2017, S. 3294-3302
doi:10.1016/j.bbadis.2017.09.002 PMID BibTeX | RIS

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. In: Journal of Pediatric Endocrinology & Metabolism, 30(10), 2017, S. 1121-1124
doi:10.1515/jpem-2017-0177 PMID BibTeX | RIS

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. In: Molecular Genetics and Metabolism, 122(1-2), 2017, S. 67-75
doi:10.1016/j.ymgme.2017.06.012 PMID BibTeX | RIS

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. In: Molecular Genetics and Metabolism, 121(3), 2017, S. 206-215
doi:10.1016/j.ymgme.2017.05.014 PMID BibTeX | RIS

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. In: Molecular Genetics and Metabolism, 121(2), 2017, S. 80-82
doi:10.1016/j.ymgme.2017.04.009 PMID BibTeX | RIS

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. In: Brain and Development, 39(6), 2017, S. 536-538
doi:10.1016/j.braindev.2017.01.005 PMID BibTeX | RIS

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. In: Journal of the American Society of Nephrology, 28(1), 2017, S. 230-241
doi:10.1681/ASN.2015111224 PMID BibTeX | RIS

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. In: Pediatric Emergency Care, 32(12), 2016, S. 827-829
doi:10.1097/PEC.0000000000000582 PMID BibTeX | RIS

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. In: Molecular Medicine Reports, 14(5), 2016, S. 4906-4910
doi:10.3892/mmr.2016.5819 PMID BibTeX | RIS

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. In: Molecular Genetics and Metabolism, 119(1-2), 2016, S. 44-49
doi:10.1016/j.ymgme.2016.07.008 PMID BibTeX | RIS

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. In: Journal of the American Society of Nephrology, 27(5), 2016, S. 1426-1436
doi:10.1681/ASN.2015040411 PMID BibTeX | RIS

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. In: Metabolic Brain Disease, 31(3), 2016, S. 587-592
doi:10.1007/s11011-015-9778-6 PMID BibTeX | RIS

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. In: JIMD Reports, Vol.29, 2016, S. 33-38
doi:10.1007/8904_2015_519 PMID BibTeX | RIS

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. In: Journal of Inherited Metabolic Disease, 38(5), 2015, S. 873-879
doi:10.1007/s10545-015-9841-9 PMID BibTeX | RIS

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. In: PLoS ONE, 9(5), e96823, 2014
doi:10.1371/journal.pone.0096823 PMID BibTeX | RIS

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. In: American Journal of Medical Genetics, Part A, 164(12), 2014, S. 3162-3169
doi:10.1002/ajmg.a.36766 PMID BibTeX | RIS

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. In: European Journal of Pediatrics, 173(7), 2014, S. 971-974
doi:10.1007/s00431-014-2359-6 PMID BibTeX | RIS

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. In: Journal of Controlled Release, Vol.187, 2014, S. 74-82
doi:10.1016/j.jconrel.2014.05.033 PMID BibTeX | RIS

Toshiyuki Fukao, Grant Mitchell, Jörn Oliver Sass, Tomohiro Hori, Kenji Orii, Yuka Aoyama: Ketone body metabolism and its defects. In: Journal of Inherited Metabolic Disease, 37(4), 2014, S. 541-551
doi:10.1007/s10545-014-9704-9 PMID BibTeX | RIS

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. In: Orphanet Journal of Rare Diseases, Vol.9, 130, 2014
doi:10.1186/s13023-014-0130-8 PMID BibTeX | RIS

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. In: Journal of Inherited Metabolic Disease, 36(6), 2013, S. 913-921
doi:10.1007/s10545-012-9579-6 PMID BibTeX | RIS

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. In: Journal of Inherited Metabolic Disease, 36(6), 2013, S. 983-987
doi:10.1007/s10545-013-9589-z PMID BibTeX | RIS

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. In: Orphanet Journal of Rare Diseases, Vol.8, 2013, S. 57
doi:10.1186/1750-1172-8-57 PMID BibTeX | RIS

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. In: Journal of Diabetes & Metabolic Disorders, 12(1), 2013, S. 37
doi:10.1186/2251-6581-12-37 PMID BibTeX | RIS

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. In: Orphanet Journal of Rare Diseases, Vol.8, 2013, S. 6
doi:10.1186/1750-1172-8-6 PMID BibTeX | RIS

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. In: Nutrition Journal, Vol.12, 2013, S. 60
doi:10.1186/1475-2891-12-60 PMID BibTeX | RIS

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. In: Molecular Genetics and Metabolism, 108(4), 2013, S. 263-266
doi:10.1016/j.ymgme.2013.01.011 PMID BibTeX | RIS

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. In: FASEB Journal, 26(10), 2012, S. 4316-4326
doi:10.1096/fj.12-206326 PMID BibTeX | RIS

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. In: Journal of Allergy and Clinical Immunology, 130(4), 2012, S. 991-994
doi:10.1016/j.jaci.2012.04.004 PMID BibTeX | RIS

Anke Sommer, Jörn Oliver Sass: Expression of aspartoacylase (ASPA) and Canavan disease. In: Gene, 505(2), 2012, S. 206-210
doi:10.1016/j.gene.2012.06.036 PMID BibTeX | RIS

Sabine Scholl-Bürgi, Jörn Oliver Sass, Johannes Zschocke, Daniela Karall: Amino acid metabolism in patients with propionic acidaemia. In: Journal of Inherited Metabolic Disease, 35(1), 2012, S. 65-70
doi:10.1007/s10545-010-9245-9 PMID BibTeX | RIS

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. In: Journal of Inherited Metabolic Disease, 35(3), 2012, S. 437-442
doi:10.1007/s10545-011-9381-x PMID BibTeX | RIS

Jörn Oliver Sass: Inborn errors of ketogenesis and ketone body utilization. In: Journal of Inherited Metabolic Disease, 35(1), 2012, S. 23-28
doi:10.1007/s10545-011-9324-6 PMID BibTeX | RIS

Jörn Oliver Sass: Disorders of the degradation of branched chain amino acids: what is new in clinics and laboratories?. In: Journal of Inherited Metabolic Disease, 35(1), 2012, S. 1
doi:10.1007/s10545-011-9420-7 PMID BibTeX | RIS

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. In: Clinica Chimica Acta, Vol.414, 2012, S. 158-160
doi:10.1016/j.cca.2012.08.011 PMID BibTeX | RIS

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. In: Journal of Inherited Metabolic Disease, 35(1), 2012, S. 51-63
doi:10.1007/s10545-011-9399-0 PMID BibTeX | RIS

Sarah Catharina Grünert, Karl Otfried Schwab, Martin Pohl, Jörn Oliver Sass, René Santer: Fanconi-Bickel syndrome: GLUT2 mutations associated with a mild phenotype. In: Molecular Genetics and Metabolism, 105(3), 2012, S. 433-437
doi:10.1016/j.ymgme.2011.11.200 PMID BibTeX | RIS

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. In: Journal of Inherited Metabolic Disease, 35(1), 2012, S. 41-49
doi:10.1007/s10545-011-9419-0 PMID BibTeX | RIS

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. In: Annals of the Rheumatic Diseases, 71(2), 2012, S. 311-312
doi:10.1136/annrheumdis-2011-200148 PMID BibTeX | RIS

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. In: JIMD Rep. (JIMD Reports), Vol.5, 2012, S. 35-43
doi:10.1007/8904_2011_89 PMID BibTeX | RIS

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). In: American Journal of Medical Genetics, Part A, 155(11), 2011, S. 2609-2616
doi:10.1002/ajmg.a.34325 PMID BibTeX | RIS

Anke Sommer, Ernst Christensen, Susanne Schwenger, Ralf Seul, Dorothea Haas, Heike Olbrich, Heymut Omran, Jörn Oliver Sass: The molecular basis of aminoacylase 1 deficiency. In: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1812(6), 2011, S. 685-690
doi:10.1016/j.bbadis.2011.03.005 PMID BibTeX | RIS

Jörn Oliver Sass: Selective screening for inborn errors of metabolism--assessment of metabolites in body fluids. In: Clinical Biochemistry, 44(7), 2011, S. 474-475
doi:10.1016/j.clinbiochem.2011.03.017 PMID BibTeX | RIS

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. In: Brain and Development, 33(5), 2011, S. 432-436
doi:10.1016/j.braindev.2010.07.012 PMID BibTeX | RIS

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. In: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1812(5), 2011, S. 619-624
doi:10.1016/j.bbadis.2011.01.015 PMID BibTeX | RIS

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. In: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1802(7-8), 2010, S. 639-648
doi:10.1016/j.bbadis.2010.03.013 PMID BibTeX | RIS

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. In: Nucleosides, Nucleotides & Nucleic Acids, 29(4-6), 2010, S. 509-514
doi:10.1080/15257771003730227 PMID BibTeX | RIS

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. In: Journal of Inherited Metabolic Disease, 33(Suppl 3), 2010, S. 211-214
doi:10.1007/s10545-010-9089-3 PMID BibTeX | RIS

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. In: Amino Acids, 38(5), 2010, S. 1473-1481
doi:10.1007/s00726-009-0356-2 PMID BibTeX | RIS

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. In: Brain and Development, 32(7), 2010, S. 544-549
doi:10.1016/j.braindev.2009.09.005 PMID BibTeX | RIS

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). In: Human Mutation, 31(12), 2010, S. 1280-1285
doi:10.1002/humu.21375 PMID BibTeX | RIS

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. In: EMBO Molecular Medicine, 2(2), 2010, S. 51-62
doi:10.1002/emmm.200900055 PMID BibTeX | RIS

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. In: Clinica Chimica Acta, 411(23-24), 2010, S. 2087-2091
doi:10.1016/j.cca.2010.09.006 PMID BibTeX | RIS

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. In: J Lipid Res. (Journal of Lipid Research), 51(6), 2010, S. 1591-1598
doi:10.1194/jlr.D003814 PMID BibTeX | RIS

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. In: Klinische Pädiatrie, 222(1), 2010, S. 35-37
doi:10.1055/s-0029-1239525 PMID BibTeX | RIS

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. In: Journal of Pediatric Gastroenterology and Nutrition, 50(1), 2010, S. 106-107
doi:10.1097/MPG.0b013e3181c48cde PMID BibTeX | RIS

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). In: Human Genetics, 125(5-6), 2009, S. 581-590
doi:10.1007/s00439-009-0653-6 PMID BibTeX | RIS

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. In: International Journal of Neuroscience, 119(11), 2009, S. 2118-2123
doi:10.1080/00207450903139655 PMID BibTeX | RIS

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. In: The Journal of Investigative Dermatology, 129(7), 2009, S. 1650-1655
doi:10.1038/jid.2008.450 PMID BibTeX | RIS

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. In: Journal of Inherited Metabolic Disease, 32(Suppl 1), 2009, S. 21-25
doi:10.1007/s10545-009-0933-2 PMID BibTeX | RIS

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. In: American Journal of Psychiatry, 166(4), 2009, S. 494-495
doi:10.1176/appi.ajp.2008.08101525 PMID BibTeX | RIS

Afshin Borhani Haghighi, Ali Nabavizadeh, Jörn Oliver Sass, Anahid Safari, Kamran B. Lankarani: Mitochondrial neurogastrointestinal encephalomyopathy. In: Archives of Iranian Medicine, 12(6), 2009, S. 588-590
PMID BibTeX | RIS

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'. In: Journal of Inherited Metabolic Disease, 31(3), 2008, S. 395-398
doi:10.1007/s10545-008-0796-y PMID BibTeX | RIS

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. In: Molecular Genetics and Metabolism, 93(1), 2008, S. 30-35
doi:10.1016/j.ymgme.2007.09.002 PMID BibTeX | RIS

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. In: Journal of Inherited Metabolic Disease, 31(Suppl 2), 2008, S. 275-279
doi:10.1007/s10545-008-0855-4 PMID BibTeX | RIS

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. In: Neuropediatrics, 39(2), 2008, S. 119-122
doi:10.1055/s-2008-1081217 PMID BibTeX | RIS

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. In: NMR Biomed. (NMR in Biomedicine), 21(2), 2008, S. 138-147
doi:10.1002/nbm.1170 PMID BibTeX | RIS

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. In: Neurology, 68(24), 2007, S. 2151-2153
doi:10.1212/01.wnl.0000264933.56204.e8 PMID BibTeX | RIS

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. In: J Pediatr. (The Journal of Pediatrics), 150(2), 2007, S. 192-197.e1
doi:10.1016/j.jpeds.2006.11.043 PMID BibTeX | RIS

Jörn Oliver Sass: Laboratory diagnosis of sulphite oxidase deficiency. In: European Journal of Pediatrics, 165(10), 2006, S. 739
doi:10.1007/s00431-006-0122-3 PMID BibTeX | RIS

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. In: The American Journal of Human Genetics, 78(3), 2006, S. 401-409
doi:10.1086/500563 PMID BibTeX | RIS

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. In: Molecular Genetics and Metabolism, 88(3), 2006, S. 256-260
doi:10.1016/j.ymgme.2006.02.003 PMID BibTeX | RIS

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. In: Clinical Chemistry, 52(6), 2006, S. 1127-1137
doi:10.1373/clinchem.2005.058842 PMID BibTeX | RIS

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. In: Neuropediatrics, 36(4), 2005, S. 252-255
doi:10.1055/s-2005-865865 PMID BibTeX | RIS

Jörn Oliver Sass, Andrea Superti-Furga: Gamma-hydroxybutyric acid. In: The New England Journal of Medicine, 353(15), 2005, S. 1632-1633
doi:10.1056/NEJMc052046 PMID BibTeX | RIS

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. In: Molecular Genetics and Metabolism, 85(1), 2005, S. 12-20
doi:10.1016/j.ymgme.2005.01.008 PMID BibTeX | RIS

Willy Lehnert, Jörn Oliver Sass: Glutaconyl-CoA is the main toxic agent in glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). In: Med Hypotheses. (Medical Hypotheses), 65(2), 2005, S. 330-333
doi:10.1016/j.mehy.2005.02.021 PMID BibTeX | RIS

Martina Huemer, Burkhard Simma, Brian Fowler, Terttu Suormala, Olaf A. Bodamer, Jörn Oliver Sass: Prenatal and postnatal treatment in cobalamin C defect. In: The Journal of Pediatrics, 147(4), 2005, S. 469-472
doi:10.1016/j.jpeds.2005.04.040 PMID BibTeX | RIS

Maria Haller, Angelika Henzler-Le Boulanger, Jörn Oliver Sass, Matthias Brandis, Lothar Bernd Zimmerhackl: Successful extracorporeal treatment of a male with hyperammonaemic coma. In: Nephrology Dialysis Transplantation, 20(2), 2005, S. 453-455
doi:10.1093/ndt/gfh495 PMID BibTeX | RIS

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. In: European Journal of Human Genetics, 12(6), 2004, S. 424-432
doi:10.1038/sj.ejhg.5201172 PMID BibTeX | RIS

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. In: Human Molecular Genetics, 13(12), 2004, S. 1249-1255
doi:10.1093/hmg/ddh136 PMID BibTeX | RIS

Jörn Oliver Sass, Toyofumi Nakanishi, Takako Sato, Akira Shimizu: New approaches towards laboratory diagnosis of isolated sulphite oxidase deficiency. In: Annals of Clinical Biochemistry, 41(2), 2004, S. 157-159
doi:10.1258/000456304322880078 PMID BibTeX | RIS

Jörn Oliver Sass, Rosemarie Forstner, Wolfgang Sperl: 2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: impaired catabolism of isoleucine presenting as neurodegenerative disease. In: Brain and Development, 26(1), 2004, S. 12-14
doi:10.1016/S0387-7604(03)00071-8 PMID BibTeX | RIS

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. In: Archives of Dermatological Research, 296(4), 2004, S. 188-191
doi:10.1007/s00403-004-0483-2 PMID BibTeX | RIS

J. O. Sass, S. Sander, J. Zschocke: Isobutyryl-CoA dehydrogenase deficiency: isobutyrylglycinuria and ACAD8 gene mutations in two infants. In: Journal of Inherited Metabolic Disease, 27(6), 2004, S. 741-745
doi:10.1023/B:BOLI.0000045798.12425.1b PMID BibTeX | RIS

J. O. Sass, M. Hofmann, D. Skladal, E. Mayatepek, B. Schwahn, W. Sperl: Propionic acidemia revisited: a workshop report. In: Clinical Pediatrics, 43(9), 2004, S. 837-843
doi:10.1177/000992280404300908 PMID BibTeX | RIS

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. In: The American Journal of Human Genetics, 75(6), 2004, S. 1136-1142
doi:10.1086/426318 PMID BibTeX | RIS

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. In: Biochemical and Biophysical Research Communications, 310(1), 2003, S. 242-246
doi:10.1016/j.bbrc.2003.08.089 PMID BibTeX | RIS

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. In: Journal of Inherited Metabolic Disease, 26(1), 2003, S. 80-82
doi:10.1023/A:1024091900547 PMID BibTeX | RIS

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. In: The American Journal of Human Genetics, 72(5), 2003, S. 1300-1307
URL PMID doi:10.1086/375116 BibTeX | RIS

Jörn Oliver Sass, Sara Pascoe-González, Willy Lehnert: Screening in clinical trials. In: The Lancet, 360(9337), 2002, S. P952
doi:10.1016/S0140-6736(02)11058-0 PMID BibTeX | RIS

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. In: Human Molecular Genetics, 11(26), 2002, S. 3309-3317
doi:10.1093/hmg/11.26.3309 PMID BibTeX | RIS

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. In: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1588(2), 2002, S. 135-138
doi:10.1016/S0925-4439(02)00156-4 PMID BibTeX | RIS

J. O. Sass, W. Sperl, C. Bachmann: Treatment of neonatal hyperammonaemia. In: The Lancet, 358(9294), 2001, S. 1727-1728
doi:10.1016/S0140-6736(01)06746-0 PMID BibTeX | RIS

Jörn Oliver Sass, Daniela Skladal, Stephan Felber: Update on white matter genetic disorders. In: Pediatric Neurology, 25(4), 2001, S. 348
doi:10.1016/S0887-8994(01)00341-1 PMID BibTeX | RIS

J. O. Sass, P. Heinz-Erian, W. Högler: Increased CSF cortisol in AD is a function of APOE genotype. In: Neurology, 57(8), 2001, S. 1522-1523
doi:10.1212/WNL.57.8.1522-a PMID BibTeX | RIS

J. O. Sass, R. Crazzolara, P. Heinz-Erian: Mechanisms of brain injury in infantile child abuse. In: The Lancet, 358(9298), 2001, S. 2082-2083
doi:10.1016/S0140-6736(01)07116-1 PMID BibTeX | RIS

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. In: Archives of Toxicology, 75(8), 2001, S. 497-504
doi:10.1007/s002040100257 PMID BibTeX | RIS

W. Sperl, C. Murr, D. Skladal, J. O. Sass, T. Suormala, R. Baumgartner, U. Wendel: Odd-numbered long-chain fatty acids in propionic acidaemia. In: European Journal of Pediatrics, 159(1-2), 2000, S. 54-58
doi:10.1007/s004310050010 PMID BibTeX | RIS

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. In: Journal of Pediatric Gastroenterology and Nutrition, 31(4), 2000, S. 448-452
URL PMID BibTeX | RIS

J. O. Sass, D. Skladal: Plasma leptin in prepubertal patients with glycogen storage diseases. In: Hormone and Metabolic Research, 32(1), 2000, S. 44-46
doi:10.1055/s-2007-978585 PMID BibTeX | RIS

J. O. Sass, D. Skladal: Elevated plasma bile acid concentrations in two sisters with tyrosinaemia type I. In: Journal of Paediatrics and Child Health, 36(1), 2000, S. 91-93
doi:10.1046/j.1440-1754.2000.00455.x PMID BibTeX | RIS

J. O. Sass, J. Padberg: Human isotretinoin metabolism during indinavir therapy. In: AIDS Research and Human Retroviruses, 16(14), 2000, S. 1451-1452
doi:10.1089/08892220050141008 PMID BibTeX | RIS

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. In: Dermatology, 200(1), 2000, S. 40-42
doi:10.1159/000018313 PMID BibTeX | RIS

J. O. Sass, T. Arnhold, G. Tzimas, D. M. Jacobson: Serum vitamin A is elevated in idiopathic intracranial hypertension. In: Neurology, 54(11), 2000, S. 2192-2193
doi:10.1212/WNL.54.11.2192 PMID BibTeX | RIS

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. In: Archives of Dermatological Research, 292(12), 2000, S. 612-620
doi:10.1007/s004030000189 PMID BibTeX | RIS

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. In: The Journal of Investigative Dermatology, 112(2), 1999, S. 157-164
doi:10.1046/j.1523-1747.1999.00496.x PMID BibTeX | RIS

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. In: Drug Metabolism and Disposition, 27(3), 1999, S. 317-321
PMID URL BibTeX | RIS

J. O. Sass, D. Skladal, E. Viertler: Methionine loading in a Down's syndrome patient with cerebral infarction. In: Annals of Clinical Biochemistry, 36(2), 1999, S. 252-255
doi:10.1177/000456329903600225 PMID BibTeX | RIS

Jörn Oliver Sass, Daniela Skladal, Michaela Brunner-Krainz: Normal ascorbic acid in cerebrospinal fluid of patients with infantile neuronal ceroid-lipofuscinosis. In: Metabolic Brain Disease, 14(1), 1999, S. 67-70
doi:10.1023/A:1020613631353 PMID BibTeX | RIS

Jörn Oliver Sass, Daniela Skladal: Plasma concentrations and renal clearance of orotic acid in argininosuccinic acid synthetase deficiency. In: Pediatric Nephrology, 13(9), 1999, S. 912-916
doi:10.1007/s004670050726 PMID BibTeX | RIS

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. In: Human Mutation, 14(1), 1999, S. 89-90
doi:10.1002/(SICI)1098-1004(1999)14:1<89::AID-HUMU18>3.0.CO;2-5 PMID BibTeX | RIS

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. In: Experimental Dermatology, 8(3), 1999, S. 199-203
doi:10.1111/j.1600-0625.1999.tb00371.x PMID BibTeX | RIS

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. In: Archives of Toxicology, 71(3), 1997, S. 142-150
doi:10.1007/s002040050368 PMID BibTeX | RIS

Jörn Oliver Sass, Georg Tzimas, Heinz Nau: 9,13-Dicis-retinoic acid as an isomerization product of 9-cis-retinoic acid. In: Drug Metabolism and Disposition, 25(12), 1997, S. 1447-1448
PMID URL BibTeX | RIS

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. In: Journal of Chromatography A, 776(2), 1997, S. 342-347
doi:10.1016/S0378-4347(97)00080-7 PMID BibTeX | RIS

J. O. Sass, E. Masgrau, P. A. Piletta, H. Nau, J. H. Saurat: Plasma retinoids after topical use of retinaldehyde on human skin. In: Skin Pharmacology, 9(5), 1996, S. 322-326
doi:10.1159/000211436 PMID BibTeX | RIS

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. In: Experimental Dermatology, 5(5), 1996, S. 267-271
doi:10.1111/j.1600-0625.1996.tb00128.x PMID BibTeX | RIS

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. In: Teratology, 54(3), 1996, S. 150-156
doi:10.1002/(SICI)1096-9926(199609)54:3<150::AID-TERA5>3.0.CO;2-7 PMID BibTeX | RIS

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. In: Toxicology in Vitro, 10(1), 1996, S. 7-15
doi:10.1016/0887-2333(95)00094-1 PMID BibTeX | RIS

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. In: The Journal of Investigative Dermatology, 107(5), 1996, S. 714-719
doi:10.1111/1523-1747.ep12365603 PMID BibTeX | RIS

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. In: Toxicology Letters, 75(1-3), 1995, S. 159-168
doi:10.1016/0378-4274(94)03175-7 PMID BibTeX | RIS

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. In: Drug Metabolism and Disposition, 22(6), 1994, S. 928-936
URL PMID BibTeX | RIS

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. In: Developmental Biology, 165(2), 1994, S. 397-409
doi:10.1006/dbio.1994.1262 PMID BibTeX | RIS

Jörn Oliver Sass, Georg Tzimas, Heinz Nau: 9-cis-retinoyl-beta-D-glucuronide is a major metabolite of 9-cis-retinoic acid. In: Life Sciences, 54(6), 1994, S. 69-74
doi:10.1016/0024-3205(94)00703-9 PMID BibTeX | RIS

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. In: Journal of Chromatography A, 685(1), 1994, S. 182-188
doi:10.1016/0021-9673(94)00829-9 PMID BibTeX | RIS

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. In: Biochemical Pharmacology, 47(3), 1994, S. 485-492
doi:10.1016/0006-2952(94)90179-1 PMID BibTeX | RIS

Jörn Oliver Sass: 3,4-Didehydroretinol may be present in human embryos/fetuses. In: Reproductive Toxicology, 8(2), 1994, S. 191
doi:10.1016/0890-6238(94)90024-8 PMID BibTeX | RIS