Associated Papers
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1
Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches.
Ding S et al.
Frontiers in Genetics, 2022
Eight novel mutations detected from eight Chinese patients with isovaleric acidemia.
Li Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity.
Vockley J et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2006
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.
Ensenauer R et al.
American Journal of Human Genetics, 2004
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