Associated Papers
Isovaleric aciduria identified by newborn screening: Strategies to predict disease severity and stratify treatment.
Mütze U et al.
Journal of Inherited Metabolic Disease, 2023
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
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
Mütze U et al.
Journal of Inherited Metabolic Disease, 2021
Neonatal isovaleric acidemia in China: A case report and review of literature.
Wu F et al.
World Journal of Clinical Cases, 2021
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
Eight novel mutations detected from eight Chinese patients with isovaleric acidemia.
Li Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia.
Sakamoto O et al.
The Tohoku Journal of Experimental Medicine, 2015
Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene.
Hertecant JL et al.
European Journal of Medical Genetics, 2012
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