Cerebral Folate Deficiency and Folinic Acid Treatment in Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) Syndrome
Author:
Affiliation:
1. Department of Paediatrics, University of British Columbia, Division of Biochemical Diseases, British Columbia Children's Hospital
Publisher
Tohoku University Medical Press
Subject
General Biochemistry, Genetics and Molecular Biology,General Medicine
Link
http://www.jstage.jst.go.jp/article/tjem/211/1/211_1_95/_pdf
Reference5 articles.
1. Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC). Report of a New Case
2. Autoantibodies to Folate Receptors in the Cerebral Folate Deficiency Syndrome
3. Effective Treatment with Levodopa and Carbidopa for Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum
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2. Folate Related Pathway Gene Analysis Reveals a Novel Metabolic Variant Associated with Alzheimer’s Disease with a Change in Metabolic Profile;Metabolites;2022-05-24
3. TUBB4A-related hypomyelinating leukodystrophy: New insights from a series of 12 patients;European Journal of Paediatric Neurology;2016-03
4. NovelTUBB4Amutations and expansion of the neuroimaging phenotype of hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC);American Journal of Medical Genetics Part A;2014-04-04
5. Hipomielinización con atrofia de ganglios basales y de cerebelo. Aportación de dos nuevos casos a una entidad de descripción reciente;Revista de Neurología;2014
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