Associated Papers
[A case of adult-onset Krabbe disease diagnosed by galactocerebrosidase gene mutations, presenting with an atypical phenotype].
Honkawa Y et al.
Rinsho Shinkeigaku = Clinical Neurology, 2025
Genomic variants exclusively identified in children with birth defects and concurrent malignant tumors predispose to cancer development.
Liu Y et al.
Molecular Cancer, 2023
37543594 (PubMed )
Supplement: 12943_2023_1828_MOESM2_ESM.xlsx › suppplementaryTable_1A
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Senkevich K et al.
Brain : a Journal of Neurology, 2023
36370000 (PubMed )
Supplement: awac413_supplementary_data.zip › brain-2022-00853-File010.xlsx › S4._all_rare_variants
An autopsy case report of adult-onset Krabbe disease: Comparison with an infantile-onset case.
Sasaki M et al.
Pathology International, 2022
Advances in the Diagnosis and Treatment of Krabbe Disease.
Wenger DA et al.
International Journal of Neonatal Screening, 2021
Adult Krabbe Disease That Was Successfully Treated with Intravenous Immunoglobulin.
Fukazawa R et al.
Internal Medicine (tokyo, Japan), 2021
Molecular dynamics simulations to decipher the structural and functional consequences of pathogenic missense mutations in the galactosylceramidase (GALC) protein causing Krabbe's disease.
D TK et al.
Journal of Biomolecular Structure & Dynamics, 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4a_-_Prenatal_screening
Exonic deletions in GALC are frequent in Japanese globoid-cell leukodystrophy patients.
Irahara-Miyana K et al.
Human Genome Variation, 2018
Challenge of phenotype estimation for optimal treatment of Krabbe disease.
Sakai N et al.
Journal of Neuroscience Research, 2016
Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.
Hossain MA et al.
Gene, 2014
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