Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia. [electronic resource]
Producer: 20170515Description: 355-360 p. digitalISSN:- 1435-232X
- Acute Disease
- Amino Acid Metabolism, Inborn Errors -- diagnosis
- Asymptomatic Diseases
- Carnitine -- analogs & derivatives
- Child
- Child, Preschool
- Chronic Disease
- Creatinine -- blood
- Female
- Fibroblasts -- metabolism
- Gene Expression
- Genetic Association Studies
- Genotype
- Glycine -- analogs & derivatives
- Hemiterpenes
- Humans
- Infant
- Infant, Newborn
- Isovaleryl-CoA Dehydrogenase -- deficiency
- Male
- Mutation
- Neonatal Screening
- Pentanoic Acids -- blood
- Phenotype
- Prevalence
- Spain -- epidemiology
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Publication Type: Journal Article; Multicenter Study
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