Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3
Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.
Wilhelm K et al.
Frontiers in Genetics, 2022
35692825 (PubMed )
Supplement: DataSheet1.xlsx › Supplemental_Table_5_-_Scoring_
Phenotypic and genotypic spectrum of Turkish patients with isovaleric acidemia.
Ozgul RK et al.
European Journal of Medical Genetics, 2014
Isovaleric acidemia presenting as diabetic ketoacidosis: a case report.
Kılıç M et al.
Journal of Clinical Research in Pediatric Endocrinology, 2014
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
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