Methylmalonic semialdehyde dehydrogenase deficiency: Demonstration of defective valine and β-alanine metabolism and reduced malonic semialdehyde dehydrogenase activity in cultured fibroblasts
Author:
Publisher
Elsevier BV
Subject
Biochemistry,Endocrinology, Diabetes and Metabolism
Reference7 articles.
1. Excessive excretion of β-alanine and of 3-hydroxypropionic,R- andS-3-aminoisobutyric,R- andS-3-hydroxyisobutyric andS-2-(hydroxymethyl)butyric acids probably due to a defect in the metabolism of the corresponding malonic semialdehydes
2. Tracer studies of the interconversion of R- and S-methylmalonic semialdehydes in man
3. Malonyl coenzyme a decarboxylase deficiency
4. Properties of Purified Methylmalonate Semialdehyde Dehydrogenase of Pseudomonas aeruginosa
5. Aldehyde Oxidation
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2. Methylmalonate-Semialdehyde Dehydrogenase Deficiency With Cardiac Presentation: A Case Report With Literature Review;Journal of Pediatrics Review;2018-09-30
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4. Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria;Orphanet Journal of Rare Diseases;2013
5. Adenine Binding Mode Is a Key Factor in Triggering the Early Release of NADH in Coenzyme A-dependent Methylmalonate Semialdehyde Dehydrogenase;Journal of Biological Chemistry;2012-09
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