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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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Publicat a:JIMD Rep
Autors principals: Torres, A., Newton, S. A., Crompton, B., Borzutzky, A., Neufeld, E. J., Notarangelo, L., Berry, G. T.
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2015
Matèries:
Accés en línia: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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