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1دورية أكاديمية
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
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2دورية أكاديمية
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
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3دورية أكاديمية
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
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4دورية أكاديمية
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
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5دورية أكاديمية
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
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6دورية أكاديميةMimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
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
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7دورية أكاديمية
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
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8دورية أكاديمية
المصدر: Journal of Nutrition and Metabolism, Vol 2018 (2018)
مصطلحات موضوعية: Nutritional diseases. Deficiency diseases, RC620-627
وصف الملف: electronic resource
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9دورية أكاديمية
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)
وصف الملف: electronic resource
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10
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 Netherlandsمصطلحات 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