Clinical, Biochemical and Molecular Features of a Cohort of 8 Patients with Inherited Disorders of Vitamin B12 Metabolism in a Metabolic Reference Center.
Endocrine, metabolic & immune disorders drug targets（2023）
Abstract
Our cohort of patients has similar clinical and biochemical characteristics to the ones described in the literature. Outcomes of patients reinforce the importance of newborn screening and the need for consensus guidelines for optimal doses of parenteral hydroxocobalamin.
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