Isovaleric Acidemia: Case-Based Genotype–Phenotype Correlation and Review of Reported Variants

This publication has 39 references indexed in Scilit:

• Newborn screening for isovaleric acidemia in Quanzhou, China
  Clinica Chimica Acta, 2020
• Molecular analysis using targeted next generation DNA sequencing and clinical spectrum of Mexican patients with isovaleric acidemia
  Clinica Chimica Acta, 2020
• Eight novel mutations detected from eight Chinese patients with isovaleric acidemia
  Clinica Chimica Acta, 2019
• Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters
  Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2014
• Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia
  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
  European Journal of Medical Genetics, 2012
• Clinical variability of isovaleric acidemia in a genetically homogeneous population
  Journal of Inherited Metabolic Disease, 2012
• Isovaleric acidemia: New aspects of genetic and phenotypic heterogeneity
  American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 2006
• Structural Organization of the Human Isovaleryl-CoA Dehydrogenase Gene
  Genomics, 1993
• A mechanism of toxicity of isovaleric acid in rat liver mitochondria
  Biochemical Medicine, 1982