Delayed Diagnosis of Cobalamin E Defect in an Adolescent Patient
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DOI: 10.4103/jpn.jpn_132_19
Abstract: Cobalamin and its metabolites play a critical role in deoxyribonucleic acid synthesis. Disorders of cobalamin metabolism are rare and related with neurological and hematological problems. We report an adolescent patient with cobalamin E (CblE) defect… read more here.
Keywords: defect adolescent; diagnosis cobalamin; delayed diagnosis; adolescent patient ... See more keywords