Associated Papers
Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches.
Ji X et al.
Prenatal Diagnosis, 2019
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.
Almannai M et al.
Molecular Genetics and Metabolism, 2017
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