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
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.
Ozgul RK et al.
European Journal of Medical Genetics, 2014
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
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
Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.
Mohsen AW et al.
Biochemistry, 1998
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
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