Associated Papers
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
40421383 (PubMed )
Supplement: Table1.xlsx › Table_S3
Rare variant association analyses reveal the significant contribution of carbohydrate metabolic disturbance in severe adolescent idiopathic scoliosis.
Wen W et al.
Journal of Medical Genetics, 2024
38724173 (PubMed )
Supplement: jmg-2023-109667supp006.xlsx › Sheet1
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
A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies.
Lu G et al.
Frontiers in Genetics, 2022
35432459 (PubMed )
Supplement: Table1.xlsx › Sheet1
Adult-onset Krabbe disease presenting with progressive myoclonic epilepsy and asymmetric occipital lesions: A case report.
Wang Y et al.
Frontiers in Neurology, 2022
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
Krabbe Disease: Prospects of Finding a Cure Using AAV Gene Therapy.
Nasir G et al.
Frontiers in Medicine, 2021
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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