Very long‐term outcomes in 23 patients with cblA type methylmalonic acidemia

OBJECTIVES: To present the very long‐term follow up of patients with cobalamin A (cblA) deficiency. METHODS: A retrospective case series of adult (>16 years) patients with molecular or enzymatic diagnosis of cblA deficiency. RESULTS: We included 23 patients (mean age: 27 ± 7.6 years; mean follow‐...

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Detalles Bibliográficos
Autores principales: Marelli, Cecilia, Fouilhoux, Alain, Benoist, Jean‐Francois, De Lonlay, Pascale, Guffon‐Fouilhoux, Nathalie, Brassier, Anais, Cano, Aline, Chabrol, Brigitte, Pennisi, Alessandra, Schiff, Manuel, Acquaviva, Cecile, Murphy, Elaine, Servais, Aude, Lachmann, Robin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: **John Wiley & Sons, Inc. 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9540587/
https://www.ncbi.nlm.nih.gov/pubmed/35618652
http://dx.doi.org/10.1002/jimd.12525

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