Cerebral folate deficiency: A report of two affected siblings

Cerebral folate deficiency (CFD) is a rare progressive neurological condition characterized by normal blood folate level and low 5-methyltetrahydrofolate (5-MTHF) levels in the cerebrospinal fluid. Patients present with different neurological findings including hypotonia and microcephaly. Later, pat...

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Bibliographic Details
Published in:Molecular Genetics and Metabolism Reports
Main Authors: Rabah Almahmoud, Mohammed Mekki, Ayman W. El-Hattab
Format: Article
Language:English
Published: Elsevier 2023-06-01
Subjects:
Cerebral folate deficiency
Folinic acid
FOLR1 mutation
Whole exome sequencing
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426923000216

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http://www.sciencedirect.com/science/article/pii/S2214426923000216

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