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Article

Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature.

Cold Spring Harbor molecular case studies - 1 Feb 2022

Nguyen Minh G, Tronick Lauren, Modirian Faraz, Mardach Rebecca, Besterman Aaron D

Abstract excerpt

Cobalamin C disease is the most common complementation class of cobalamin disorders. Here, we present a case of a 14-yr-old male with early-onset cblC disease and autism spectrum disorder (ASD) admitted to our inpatient medical service for behavioral decompensation. We use this case to highlight key aspects of the neurodevelopmental and neuropsychiatric disorders associated with cblC disease. By incorporating a...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35105663
DOI: 10.1101/mcs.a006179
PMCID: PMC8958916

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