Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature-Reference-Cited by-同舟云学术

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Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature

Published:2020-10-15 Issue: Volume:11 Page:
ISSN:1664-2295
Container-title:Frontiers in Neurology
language:
Short-container-title:Front. Neurol.

Author:

Bascou Nicholas A.,Beltran-Quintero Maria L.,Escolar Maria L.

Funder

National Institutes of Health

Legacy of Angels Foundation

Publisher

Frontiers Media SA

Subject

Neurology (clinical),Neurology

Reference31 articles.

1. Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications;Wenger;Hum Mutat,1997

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. Overview of Neuro-Ophthalmic Findings in Leukodystrophies;Journal of Clinical Medicine;2024-08-28

2. From pathological mechanisms in Krabbe disease to cutting‐edge therapy: A comprehensive review;Neuropathology;2024-03-06

3. Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature;Neurocase;2024-03-03

4. GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson’s disease;Brain;2022-11-11

5. Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report;Frontiers in Neurology;2022-10-21

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