Tag: ethidium bromide rna

itlhealthcare

Isovaleric acidemia due to compound heterozygous

[Isovaleric acidemia due to compound heterozygous variants of IVD gene in a case]  Objective: To analyze the clinical features, biochemical characteristics and molecular pathogenesis of a girl with isovaleric acidemia. Methods: Clinical features, blood spot amino acid profiles and urinary organic acid profiles of the patient were analyzed. Targeted capture, next generation sequencing and

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