Combined malonic, methylmalonic and ethylmalonic acid semialdehyde dehydrogenase deficiencies: an inborn error of beta-alanine, L-valine and L-alloisoleucine metabolism? [electronic resource]
Producer: 19950817Description: 563-7 p. digitalISSN:- 0141-8955
- Alanine -- metabolism
- Aldehyde Oxidoreductases -- deficiency
- Amino Acid Metabolism, Inborn Errors -- enzymology
- Child
- Fibroblasts -- enzymology
- Humans
- Hydroxybutyrate Dehydrogenase -- deficiency
- Isoleucine -- metabolism
- Male
- Malonate-Semialdehyde Dehydrogenase (Acetylating)
- Methylmalonate-Semialdehyde Dehydrogenase (Acylating)
- Valine -- metabolism
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Publication Type: Case Reports; Journal Article
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