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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...
Autores principales: | Tan, Jianmin, Li, Xiujuan, Guo, Yi, Xie, Lingling, Wang, Juan, Ma, Jiannan, Jiang, Li |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Wolters Kluwer Health
2017
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Materias: | |
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 |
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