Outcomes of patients with cobalamin C deficiency: A single center experience

Biallelic variants in MMACHC results in the combined methylmalonic aciduria and homocystinuria, called cobalamin (cbl) C (cblC) deficiency. We report 26 patients with cblC deficiency with their phenotypes, genotypes, biochemical parameters, and treatment outcomes, who were diagnosed and treated at o...

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Detalles Bibliográficos
Autores principales: Bourque, Danielle K., Mellin‐Sanchez, Lizbeth E., Bullivant, Garrett, Cruz, Vivian, Feigenbaum, Anette, Hewson, Stacy, Raiman, Julian, Schulze, Andreas, Siriwardena, Komudi, Mercimek‐Andrews, Saadet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Research Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7802631/
https://www.ncbi.nlm.nih.gov/pubmed/33473346
http://dx.doi.org/10.1002/jmd2.12179

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