المؤلفون: Stefan Kühn, Monray E. Williams, Marli Dercksen, Jörn Oliver Sass, Rencia van der Sluis

المصدر: Computational and Structural Biotechnology Journal, Vol 21, Iss , Pp 1236-1248 (2023)

مصطلحات موضوعية: Isovaleric acidemia, Glycine N-acyltransferase, Glycine conjugation, N-isovalerylglycine, Biotechnology, TP248.13-248.65

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2001037023000430; https://doaj.org/toc/2001-0370

URL الوصول: https://doaj.org/article/d4641ebee45f45a380b5cb516ca7d913

المؤلفون: Déborah Mathis, Jörn Oliver Sass, Claudia Graubner, Angelika Schoster

المصدر: Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100827- (2021)

مصطلحات موضوعية: Acquired multiple acyl-CoA dehydrogenase deficiency, Seasonal pasture myopathy, Hypoglycin A, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426921001221; https://doaj.org/toc/2214-4269

URL الوصول: https://doaj.org/article/94ed41f643b04f99b3a8537fa780aea2

المؤلفون: Sarah C. Grünert, Jörn Oliver Sass

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: Ketolysis, Beta-ketothiolase, Organic aciduria, Isoleucine, Ketone body, Metabolic acidosis, Medicine

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s13023-020-01357-0; https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/45a376411334427a86db5c25e6004121

المؤلفون: Sarah C. Grünert, Jörn Oliver Sass

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-8 (2020)

مصطلحات موضوعية: Ketogenesis, Organic aciduria, Leucine, Ketone body, Metabolic acidosis, Hyperammonemia, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/64c6a0f4c0054d54b3b56de2ba5b7688

المؤلفون: Sarah C. Grünert, Jörn Oliver Sass

المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-2 (2022)

مصطلحات موضوعية: Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/7761bc4d7469482eaa90f71ff0e9e3ac

المؤلفون: Jörn Oliver Sass Dr. rer. nat., Malkanthi Fernando Dr. rer. nat., Sidney Behringer B.Sc.

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)

مصطلحات موضوعية: Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2326-4594

URL الوصول: https://doaj.org/article/56dcaa70f2634435a71c9df837a67bcb

المؤلفون: Jörn Oliver Sass Dr. rer. nat., Toshiyuki Fukao MD, PhD, Grant A. Mitchell MD

المصدر: Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)

مصطلحات موضوعية: Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2326-4594

URL الوصول: https://doaj.org/article/7231d304be204254a56f7540e6f97e6a

المؤلفون: Ina Knerr, Laurie Bernstein, Ellen Crushell, Siobhan O’Sullivan, Jörn Oliver Sass

المصدر: Journal of Nutrition and Metabolism, Vol 2018 (2018)

مصطلحات موضوعية: Nutritional diseases. Deficiency diseases, RC620-627

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-0724; https://doaj.org/toc/2090-0732

URL الوصول: https://doaj.org/article/f5557910b46e4ce2a54a67b37cd3479e

المؤلفون: Marta Torrente, Adriano Guetg, Jörn Oliver Sass, Lisa Arps, Lisa Ruckstuhl, Simone M R Camargo, François Verrey

المصدر: PLoS ONE, Vol 9, Iss 5, p e96823 (2014)

مصطلحات موضوعية: Medicine, Science

وصف الملف: electronic resource

Relation: http://europepmc.org/articles/PMC4010483?pdf=render; https://doaj.org/toc/1932-6203

URL الوصول: https://doaj.org/article/f01733bc7ed7407dbe310108bf36e743

المؤلفون: 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

المساهمون: Laboratory Genetic Metabolic Diseases, Amsterdam Gastroenterology Endocrinology Metabolism, Laboratory for General Clinical Chemistry, Amsterdam Reproduction & Development (AR&D), Paediatrics, Clinical chemistry

المصدر: Journal of inherited metabolic disease, 45(3), 445-455. Springer Netherlands
Sasarman, F, Ferdinandusse, S, Sinasac, D S, Fung, E, Sparkes, R, Reeves, M, Rombough, C, Sass, J R O, Voit, R, Ruiter, J P N, Koster, J, Waterham, H R, Pasquini, E, Donati, M A, Marquardt, T, Wanders, R J A & Al-Hertani, W 2022, ' 3-Hydroxyisobutyric acid dehydrogenase deficiency : Expanding the clinical spectrum and quantitation of D-and L-3-Hydroxyisobutyric acid by an LC–MS/MS method ', Journal of Inherited Metabolic Disease, vol. 45, no. 3, pp. 445-455 . https://doi.org/10.1002/jimd.12486
Journal of Inherited Metabolic Disease, 45(3), 445-455. Springer Netherlands

مصطلحات موضوعية: 3-hydroxyisobutyrate dehydrogenase, Hydroxybutyrates, Valine, valine catabolic pathway, Tandem Mass Spectrometry, Genetics, Humans, 3-hydroxyisobutyric acid dehydrogenase deficiency, HIBADH, HIBADH deficiency, Oxidoreductases, Amino Acid Metabolism, Inborn Errors, 3-hydroxyisobutyric aciduria, Genetics (clinical), Chromatography, Liquid

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::de42948885439dd23c5e3881b2097d9e
https://doi.org/10.1002/jimd.12486