CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency

Hereditary folate malabsorption is characterized by folate deficiency with impaired folate transport into the central nervous system (CNS). This disease is characterized by megaloblastic anemia of early appearance, combined immunodeficiency, seizures, and cognitive impairment. The anemia and immunol...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Torres, A., Newton, S. A., Crompton, B., Borzutzky, A., Neufeld, E. J., Notarangelo, L., Berry, G. T.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4582027/
https://ncbi.nlm.nih.gov/pubmed/26006721
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_445
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