The MMACHC Variant C.158t>c: Mild Clinical and Biochemical Phenotypes and Marked Hydroxocobalamin Response in Cblc Patients
Molecular Genetics and Metabolism（2024）
关键词
Vitamin B12,cblC,Inborn error of metabolism,Methylmalonic aciduria and homocystinuria type cblC,Hypomorphic variant,Genotype-phenotype correlation
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