Associated Papers
Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations.
Liu Y et al.
Journal of Human Genetics, 2019
ABC Transporter Subfamily D: Distinct Differences in Behavior between ABCD1-3 and ABCD4 in Subcellular Localization, Function, and Human Disease.
Kawaguchi K et al.
Biomed Research International, 2016
Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing.
Kim JC et al.
Molecular Genetics and Metabolism, 2012
Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism.
Coelho D et al.
Nature Genetics, 2012
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