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A case of vitamin B12 deficiency neurological syndrome in a young adult due to late-onset cobalamin C (CblC) deficiency: a diagnostic challenge

Vitamin B12 deficiency can present with neurologic and psychiatric symptoms without macrocytic anaemia. We describe a case of late-onset cobalamin C deficiency which typically presents with normal serum vitamin B12 concentrations, posing an additional diagnostic challenge. A 23-year-old woman with d...

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Detalles Bibliográficos
Autores principales: Ailliet, Scott, Vandenberghe, Rik, Schiemsky, Toon, Van Overbeke, Lode, Demaerel, Philippe, Meersseman, Wouter, Cassiman, David, Vermeersch, Pieter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Croatian Society of Medical Biochemistry and Laboratory Medicine 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8996322/
https://www.ncbi.nlm.nih.gov/pubmed/35464742
http://dx.doi.org/10.11613/BM.2022.020802