Zobrazeno 1 - 10 of 30 pro vyhledávání: '"Aida Al-Aqeel"'
2
Fructose-1,6-diphosphatase deficiency
Autor: Georg F. Hoffmann, Aida Al-Aqeel, William L. Nyhan, Bruce A. Barshop
Publikováno v: Atlas of Inherited Metabolic Diseases ISBN: 9781315114033
The enzyme fructose-1,6-diphosphatase (FDP) provides an essential step in the pathway of gluconeogenesis. The enzyme catalyzes the irreversible conversion of fructose-1,6-diphosphate to fructose-6-phosphate. Another enzyme, phosphofructokinase, and a
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::9aa401fee6e6318bcd5f51025267ad30
https://doi.org/10.1201/9781315114033-49
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3
Maple syrup urine disease (branched-chain oxoaciduria)
Autor: Georg F. Hoffmann, William L. Nyhan, Bruce A. Barshop, Aida Al-Aqeel
Publikováno v: Atlas of Inherited Metabolic Diseases ISBN: 9781315114033
Maple syrup urine disease (MSUD) is a disorder of branched-chain amino acid metabolism in which elevated quantities of leucine, isoleucine, and valine and their corresponding oxo- and corresponding hydroxyacids accumulate in body fluids. The electroe
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::88735d16087baf99d716ecadce5c2ee6
https://doi.org/10.1201/9781315114033-19
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9
Short-chain acyl CoA dehydrogenase (SCAD) deficiency
Autor: Aida Al-Aqeel, Bruce A. Barshop, Georg F. Hoffmann, William L. Nyhan
Publikováno v: Atlas of Inherited Metabolic Diseases ISBN: 9781315114033
Atlas of Metabolic Diseases Second edition ISBN: 9780429100574
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36864672bdcbb49659f095cd5fdaf321
https://doi.org/10.1201/9781315114033-42
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Plný text Recenzováno Digitální knihovna AV ČR
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