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

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...

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Detalles Bibliográficos
Autores principales: Nguyen, Minh G., Tronick, Lauren, Modirian, Faraz, Mardach, Rebecca, Besterman, Aaron D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8958916/
https://www.ncbi.nlm.nih.gov/pubmed/35105663
http://dx.doi.org/10.1101/mcs.a006179