Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency. [electronic resource]
Producer: 20131112Description: 21-7 p. digitalISSN:- 1096-7206
- Acyl-CoA Dehydrogenase, Long-Chain -- deficiency
- Adult
- Alleles
- Cells, Cultured
- Congenital Bone Marrow Failure Syndromes
- Female
- Fibroblasts -- cytology
- Genotype
- Heterozygote
- Humans
- Infant, Newborn
- Lipid Metabolism, Inborn Errors -- diagnosis
- Male
- Mitochondrial Diseases -- diagnosis
- Muscular Diseases -- diagnosis
- Mutation, Missense
- Neonatal Screening
- Sequence Analysis, DNA
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Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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