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Methylmalonate semialdehyde dehydrogenase deficiency

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Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Methylmalonate semialdehyde dehydrogenase deficiency" returned 0 free, full-text review articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Methylmalonate semialdehyde dehydrogenase deficiency" returned 0 free, full-text research articles. First 0 results:
Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency.
Last Updated: Aug 31, 2019

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 ...

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