Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists

BACKGROUND: Methylmalonic aciduria and homocystinuria, CblC type (OMIM #277400) is the most common disorder of cobalamin intracellular metabolism, an autosomal recessive disease, whose biochemical hallmarks are hyperhomocysteinemia, methylmalonic aciduria and low plasma methionine. Despite being a w...

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Detalles Bibliográficos
Autores principales: Kalantari, Silvia, Brezzi, Brigida, Bracciamà, Valeria, Barreca, Antonella, Nozza, Paolo, Vaisitti, Tiziana, Amoroso, Antonio, Deaglio, Silvia, Manganaro, Marco, Porta, Francesco, Spada, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8812048/
https://www.ncbi.nlm.nih.gov/pubmed/35109910
http://dx.doi.org/10.1186/s13023-022-02179-y

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