Hereditary folate malabsorption with a novel mutation on SLC46A1: A case report

RATIONALE: Hereditary folate malabsorption (HFM) is characterized by folate deficiency with impaired intestinal folate absorption and impaired folate transport into the central nervous system. Its manifestations mainly include macrocytic anemia, recurrent infections, and neurological deficits. The n...

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Detalles Bibliográficos
Autores principales: Tan, Jianmin, Li, Xiujuan, Guo, Yi, Xie, Lingling, Wang, Juan, Ma, Jiannan, Jiang, Li
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2017
Materias:
5300
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815676/
https://www.ncbi.nlm.nih.gov/pubmed/29390264
http://dx.doi.org/10.1097/MD.0000000000008712

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815676/
https://www.ncbi.nlm.nih.gov/pubmed/29390264
http://dx.doi.org/10.1097/MD.0000000000008712

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