Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype

(2015) Stefan Kölker et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Phenotypic Variability and Newly Identified Mutations of the IVD Gene in Japanese Patients with Isovaleric Acidemia

(2015) Osamu Sakamoto et al.   TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE

Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia

(2014) Rıza Koksal Ozgul et al.   European Journal of Medical Genetics

Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases

(2014) Sowmiya Moorthie et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical and molecular analysis of isovaleric acidemia patients in the United Arab Emirates reveals remarkable phenotypes and four novel mutations in the IVD gene

(2012) Jozef L. Hertecant et al.   European Journal of Medical Genetics

Clinical variability of isovaleric acidemia in a genetically homogeneous population

(2012) M. Dercksen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Clinical and neurocognitive outcome in symptomatic isovaleric acidemia

(2012) Sarah C Grünert et al.   Orphanet Journal of Rare Diseases

Development of electrospray ionization tandem mass spectrometry methods for the study of a high number of urine markers of inborn errors of metabolism

(2012) M. Maira Rebollido-Fernandez et al.   RAPID COMMUNICATIONS IN MASS SPECTROMETRY

Newborn Screening for Isovaleric Acidemia Using Tandem Mass Spectrometry: Data from 1.6 Million Newborns

(2011) R. Ensenauer et al.   CLINICAL CHEMISTRY

Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia

(2011) Nithiwat Vatanavicharn et al.   PEDIATRICS INTERNATIONAL

Induction of oxidative stress by the metabolites accumulating in isovaleric acidemia in brain cortex of young rats

(2008) Alexandre F. Solano et al.   FREE RADICAL RESEARCH