Associated Papers
Gene therapy for Krabbe disease: evidence from mouse and canine models.
Li Y et al.
Gene, 2026
Genetic and Clinical Characteristics of Chinese Adult Patients With Krabbe Disease.
Zhang Y et al.
Cns Neuroscience & Therapeutics, 2025
Clinical application of expanded carrier screening based on next-generation sequencing in the Chinese population.
Lu J et al.
Archives of Gynecology and Obstetrics, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Newborn Screening for 6 Lysosomal Storage Disorders in China.
Chang S et al.
Jama Network Open, 2024
[Genetic analysis of a case with Adult-onset globoid cell leukodystrophy].
Liang W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Diagnostic efficiency of exome-based sequencing in pediatric patients with epilepsy.
Zou H et al.
Frontiers in Genetics, 2024
rAAV2-Mediated Restoration of GALC in Neural Stem Cells from Krabbe Patient-Derived iPSCs.
Tian G et al.
Pharmaceuticals (basel, Switzerland), 2023
Identifying altered developmental pathways in human globoid cell leukodystrophy iPSCs-derived NSCs using transcriptome profiling.
Lv Y et al.
Bmc Genomics, 2023
Globoid Cell Leukodystrophy (Krabbe Disease): An Update.
Maghazachi AA
Immunotargets and Therapy, 2023
Production and characterization of human induced pluripotent stem cell line (PUMCi002-A) from a Krabbe patient related control to study disease mechanisms associated with GALC mutation.
Lv YF et al.
Stem Cell Research, 2022
A novel compound heterozygous mutation in GALC associated with adult-onset Krabbe disease: case report and literature review.
Iacono S et al.
Neurogenetics, 2022
The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.
Zhao YW et al.
Frontiers in Aging Neuroscience, 2021
Generation of a human induced pluripotent stem cell line PUMCi001-A from a patient with Krabbe disease.
Wang W et al.
Stem Cell Research, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
New clinical characteristics and novel pathogenic variants of patients with hereditary leukodystrophies.
Xie JJ et al.
Cns Neuroscience & Therapeutics, 2020
Novel GALC Mutations Cause Adult-Onset Krabbe Disease With Myelopathy in Two Chinese Families: Case Reports and Literature Review.
Zhong J et al.
Frontiers in Neurology, 2020
[Clinical and genetic analysis of a patient with Krabbe disease presented as peripheral neuropathy].
Wang W et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.
Zhao S et al.
Clinical Genetics, 2018
[Krabbe disease (globoid cell leukodystrophy)].
Sakai N et al.
Nihon Rinsho. Japanese Journal of Clinical Medicine, 1995