Complex Heterozygous Polymerase Gamma Mutation and Cerebral Folate Deficiency in a Child with Refractory Partial Status

Neurol India. 2022 Sep-Oct;70(5):2265-2267. doi: 10.4103/0028-3886.359254.

Authors

Debopam Samanta¹, Raghu Ramakrishnaiah², Richard E Frye¹

Affiliations

¹ Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.
² Department of Neuroradiology and Pediatric Radiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA.

PMID: 36352670
DOI: 10.4103/0028-3886.359254

No abstract available

Publication types

Letter

MeSH terms

Child
Folate Receptor 1*
Folic Acid / therapeutic use
Humans
Mutation / genetics
Neuroaxonal Dystrophies* / genetics

Substances

Folate Receptor 1
Folic Acid

Supplementary concepts

Neurodegeneration Due To Cerebral Folate Transport Deficiency