Treatable Neurodegenerative Disorder: Cerebral Folate Transport Deficiency––Two Children from Southern India

Cerebral folate transport deficiency results from impaired folate transport across the blood:choroid plexus:cerebrospinal fluid (CSF) barrier. This leads to low CSF 5-methyltetrahydrofolate (5MTHF), the active folate metabolite. We are reporting two children with this treatable cerebral folate trans...

Descripción completa

Detalles Bibliográficos
Autores principales: Gowda, Vykuntaraju K, Natarajan, Balamurugan, Srinivasan, Varunvenkat M, Shivappa, Sanjay K
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757528/
https://www.ncbi.nlm.nih.gov/pubmed/36531775
http://dx.doi.org/10.4103/jpn.JPN_76_20

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9757528/
https://www.ncbi.nlm.nih.gov/pubmed/36531775
http://dx.doi.org/10.4103/jpn.JPN_76_20

Ejemplares similares