No abstract available
Publication types
-
Case Reports
-
Research Support, Non-U.S. Gov't
MeSH terms
-
Consanguinity
-
Female
-
Folic Acid / cerebrospinal fluid
-
Folic Acid / metabolism
-
Folic Acid / therapeutic use
-
Folic Acid Deficiency / diagnosis
-
Folic Acid Deficiency / genetics*
-
Humans
-
Infant
-
Magnetic Resonance Imaging
-
Malabsorption Syndromes / diagnosis
-
Malabsorption Syndromes / genetics*
-
Microcephaly / genetics
-
Neurologic Examination
-
Proton-Coupled Folate Transporter / genetics
-
Seizures / etiology
-
Tomography, X-Ray Computed
-
Treatment Outcome
Substances
-
Proton-Coupled Folate Transporter
-
SLC46A1 protein, human
-
Folic Acid
Supplementary concepts
-
Folate Malabsorption, Hereditary