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2014•JIMD ReportsOpen access

Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism

Celia Atkinson, Isabelle R. Miousse, David Watkins, David S. Rosenblatt, Julian Raiman

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Key concepts: Homocystinuria, Cobalamin, Methylmalonic aciduria, Methylmalonic acid, Methylcobalamin, Adenosylcobalamin, Homocysteine, Vitamin B12

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Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism — Research Paper | ScholarLens