Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature
Author:
Funder
National Institutes of Health
Legacy of Angels Foundation
Publisher
Frontiers Media SA
Subject
Neurology (clinical),Neurology
Reference31 articles.
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2. Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review;Debs;J Inherit Metab Dis,2013
3. MR imaging and proton MR spectroscopy in adult Krabbe disease;Farina;AJNR,2000
4. Globoid cell leukodystrophy: Krabbe disease;Knaap,2005
5. Newborn screening for Krabbe disease: the New York state model;Duffner;Pediatr Neurol,2009
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1. GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease;Brain;2022-11-11
2. Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report;Frontiers in Neurology;2022-10-21
3. Adult‐onset Krabbe disease presenting as isolated sensorimotor demyelinating polyneuropathy: A case report;Journal of the Peripheral Nervous System;2022-10-11
4. A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report;Neurocase;2022-05-04
5. GALCvariants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease;2022-05-03
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