Associated Papers
Clinical feature, GALC variant spectrum, and genotype-phenotype correlation in Korean Krabbe disease patients: Multicenter experience over 13 years.
Hwang N et al.
Clinical Genetics, 2024
Splicing mutations of GALC in adult patient with adult-onset Krabbe disease: case report and review of literature.
Su Y et al.
Neurocase, 2024
A novel GALC gene mutation associated with adult-onset Krabbe disease: a case report.
He Z et al.
Neurocase, 2022
Compound heterozygous pathogenic variants in the GALC gene cause infant-onset Krabbe disease.
Zhang X et al.
Translational Pediatrics, 2021
Adult-onset Krabbe disease due to a homozygous GALC mutation without abnormal signals on an MRI in a consanguineous family: A case report.
Xia Z et al.
Molecular Genetics & Genomic Medicine, 2020
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease.
Guenzel AJ et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature.
Bascou NA et al.
Frontiers in Neurology, 2020
Adult-onset Krabbe disease in two generations of a Chinese family.
Zhang T et al.
Annals of Translational Medicine, 2018
Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.
Zhao S et al.
Clinical Genetics, 2018
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