Associated Papers
Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta-Analysis.
Reischl-Hajiabadi AT et al.
Journal of Inherited Metabolic Disease, 2025
Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions.
Thimm E et al.
International Journal of Neonatal Screening, 2025
Rare variants and founder effect in the Beauce region of Quebec.
Gagnon M et al.
Communications Biology, 2025
Germline Whole-Exome Sequencing in Non-Smoker Lung Cancer Patients Reveals Pathogenic Variants in Lung Cancer Driver Genes.
Carapezza G et al.
Genes, Chromosomes & Cancer, 2025
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
The glycine N-acyltransferases, GLYAT and GLYATL1, contribute to the detoxification of isovaleryl-CoA - an in-silico and in vitro validation.
Kühn S et al.
Computational and Structural Biotechnology Journal, 2023
Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.
Wilhelm K et al.
Frontiers in Genetics, 2022
Analysis of the genotype-phenotype correlation in isovaleric acidaemia: A case report of long-term follow-up of a chinese patient and literature review.
Liu X et al.
Frontiers in Neurology, 2022
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
Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.
Tan J et al.
Frontiers in Genetics, 2021
Newborn screening for isovaleric acidemia in Quanzhou, China.
Lin Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Prenatal Diagnosis of Organic Acidemias at a Tertiary Center.
Tanacan A et al.
Balkan Journal of Medical Genetics : Bjmg, 2019
Aspects of Newborn Screening in Isovaleric Acidemia.
Schlune A et al.
International Journal of Neonatal Screening, 2018
Introduction of a Simple Second Tier Screening Test for C5 Isobars in Dried Blood Spots: Reducing the False Positive Rate for Isovaleric Acidaemia in Expanded Newborn Screening.
Carling RS et al.
Jimd Reports, 2018
Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia.
Couce ML et al.
Journal of Human Genetics, 2017
Angelman syndrome and isovaleric acidemia: What is the link?
Lambrecht A et al.
Molecular Genetics and Metabolism Reports, 2015
Chronic intermittent form of isovaleric aciduria in a 2-year-old boy.
Cho JM et al.
Korean Journal of Pediatrics, 2013
Two novel isovaleryl-CoA dehydrogenase gene mutations in a Chinese infant.
Bei F et al.
Gene, 2013
Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.
Kaya N et al.
Gene, 2013
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
Clinical variability of isovaleric acidemia in a genetically homogeneous population.
Dercksen M et al.
Journal of Inherited Metabolic Disease, 2012
Phenotypic and mutation spectrums of Thai patients with isovaleric acidemia.
Vatanavicharn N et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2011
Short-chain acyl-coenzyme A dehydrogenase deficiency.
Jethva R et al.
Molecular Genetics and Metabolism, 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
Exon skipping in IVD RNA processing in isovaleric acidemia caused by point mutations in the coding region of the IVD gene.
Vockley J et al.
American Journal of Human Genetics, 2000
Characterization of molecular defects in isovaleryl-CoA dehydrogenase in patients with isovaleric acidemia.
Mohsen AW et al.
Biochemistry, 1998
Molecular characterization of four different classes of mutations in the isovaleryl-CoA dehydrogenase gene responsible for isovaleric acidemia.
Vockley J et al.
American Journal of Human Genetics, 1991
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
'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.
Dionisi-Vici C et al.
Journal of Inherited Metabolic Disease, 0
Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia.
Lee YW et al.
Molecular Genetics and Metabolism, 0
Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.
D'Annibale OM et al.
Molecular Genetics and Metabolism, 0