Associated Papers
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Targeted exome sequencing strategy (NeoEXOME) for Chinese newborns using a pilot study with 3423 neonates.
Cao Z et al.
Molecular Genetics & Genomic Medicine, 2024
Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022.
Wang D et al.
Frontiers in Genetics, 2024
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
Prenatal Diagnosis of Isovaleric Acidemia From Amniotic Fluid Using Genetic and Biochemical Approaches.
Ding S et al.
Frontiers in Genetics, 2022
[Isovaleric acidemia due to compound heterozygous variants of IVD gene in a case].
Che F et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2021
Neonatal isovaleric acidemia in China: A case report and review of literature.
Wu F et al.
World Journal of Clinical Cases, 2021
Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.
Ozgul RK et al.
European Journal of Medical Genetics, 2014
Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant.
Bei F et al.
Gene, 2013
[Clinical and mutational study of a Chinese infant with isovaleric acidemia].
Qiu WJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2008
Genetic mutation profile of isovaleric acidemia patients in Taiwan.
Lin WD et al.
Molecular Genetics and Metabolism, 2007
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
Isovaleric acidemia diagnosed promptly by tandem mass spectrometry: report of one case.
Wei CC et al.
Acta Paediatrica Taiwanica = Taiwan Er Ke Yi Xue Hui Za Zhi, 0