Isovaleric acidemia due to compound heterozygous variants of IVD gene in a case 

Isovaleric acidemia because of compound heterozygous variants of IVD gene in a case  Goal: To research the medical options, biochemical traits and molecular pathogenesis of a lady with isovaleric acidemia. Strategies: Medical options, blood spot amino acid profiles and urinary natural acid profiles of the affected person have been analyzed. Focused seize, subsequent era sequencing and Sanger sequencing […]