Associated Papers
A Clinical and Genetic Evaluation of Cases with Folate Receptor α Gene Mutation: A Case Series from Türkiye.
Akgun A et al.
Diagnostics (basel, Switzerland), 2025
Folate receptor α deficiency - Myelin-sensitive MRI as a reliable biomarker to monitor the efficacy and long-term outcome of a new therapeutic approach.
Dreha-Kulaczewski S et al.
Journal of Inherited Metabolic Disease, 2024
Case Report: Cerebral folate deficiency caused by FOLR1 variant.
Wang Q et al.
Frontiers in Pediatrics, 2024
Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature.
Potic A et al.
Orphanet Journal of Rare Diseases, 2023
Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.
Susgun S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
Cerebral folate transporter deficiency: a potentially treatable neurometabolic disorder.
Kanmaz S et al.
Acta Neurologica Belgica, 2023
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
Hiz Kurul S et al.
Brain : a Journal of Neurology, 2022
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.
Segur-Bailach E et al.
Journal of Clinical Medicine, 2022
Cerebral folate deficiency: Analytical tests and differential diagnosis.
Pope S et al.
Journal of Inherited Metabolic Disease, 2019
Mutations in folate transporter genes and risk for human myelomeningocele.
Findley TO et al.
American Journal of Medical Genetics. Part A, 2017
Treatable Inborn Errors of Metabolism Due to Membrane Vitamin Transporters Deficiency.
Ortigoza Escobar JD et al.
Seminars in Pediatric Neurology, 2016
Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency.
Toelle SP et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2014
Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency.
Grapp M et al.
Brain : a Journal of Neurology, 2012
Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM).
Dill P et al.
Molecular Genetics and Metabolism, 2011