Novel GALC Mutations Cause Adult-Onset Krabbe Disease With Myelopathy in Two Chinese Families: Case Reports and Literature Review
Author:
Publisher
Frontiers Media SA
Subject
Clinical Neurology,Neurology
Reference19 articles.
1. Biochemical, cell biological, pathological, and therapeutic aspects of Krabbe's disease;Won;J Neurosci Res.,2016
2. Later onset phenotypes of Krabbe disease: results of the world-wide registry;Duffner;Pediatr Neurol.,2012
3. Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease;Tappino;Hum Mutat.,2010
4. Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease;Zhao;Clin Genet.,2018
5. Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review;Debs;J Inherit Metab Dis.,2013
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1. A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy;Frontiers in Neuroscience;2022-09-07
2. A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report;Neurocase;2022-05-04
3. Incidental magnetic resonance imaging findings leading to an unusual diagnosis: Adult onset Krabbe disease;European Journal of Neurology;2022-03-09
4. A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review;neurogenetics;2022-01-10
5. Rare Diseases in Glycosphingolipid Metabolism;Sphingolipid Metabolism and Metabolic Disease;2022
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