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Methylmalonate semialdehyde dehydrogenase deficiency
Review Articles from PubMed
Editorials from PubMed
Research Articles from PubMed
Three patients have been reported with (putative) methylmalonic semialdehyde dehydrogenase (MMSDH) deficiency. The urine metabolic pattern was strikingly different in all, including beta-alanine, 3-hydroxypropionic acid, both isomers of 3-amino- and 3-hydroxyisobutyric acids in one ...