Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case. [electronic resource]
Producer: 20201222Description: 272-277 p. digitalISSN:- 1096-7206
- Amino Acid Metabolism, Inborn Errors -- diagnosis
- Biopsy
- Cell Line
- Female
- Fibroblasts -- metabolism
- Humans
- Infant, Newborn
- Metabolomics
- Methylmalonate-Semialdehyde Dehydrogenase (Acylating) -- deficiency
- Mitochondria -- metabolism
- Phenotype
- Purine-Pyrimidine Metabolism, Inborn Errors -- diagnosis
- Skin -- pathology
- Valine -- blood
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Publication Type: Case Reports; Journal Article
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