Associated Papers
Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.
Asgari P et al.
Bmc Neurology, 2026
Genetic and Clinical Characteristics of Chinese Adult Patients With Krabbe Disease.
Zhang Y et al.
Cns Neuroscience & Therapeutics, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Quantification profiles of enzyme activity, secretion, and psychosine levels of Krabbe disease galactosylceramidase missense variants.
Peng H et al.
The Journal of Biological Chemistry, 2025
Evidence and Recommendation for Infantile Krabbe Disease Newborn Screening.
Ream MA et al.
Pediatrics, 2025
Generalized tonic-clonic seizures as the initial symptom of late-onset Krabbe disease: a Case Report.
Xie S et al.
Frontiers in Behavioral Neuroscience, 2025
Expression study of Krabbe Disease GALC missense variants - Insights from quantification profiles of residual enzyme activity, secretion and psychosine levels.
Peng H et al.
Biorxiv : the Preprint Server for Biology, 2024
Human iPSC-derived myelinating organoids and globoid cells to study Krabbe Disease.
Evans LMP et al.
Biorxiv : the Preprint Server for Biology, 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
Human iPSC-derived myelinating organoids and globoid cells to study Krabbe disease.
Evans LMP et al.
Plos One, 2024
"Atypical" Krabbe disease in two siblings harboring biallelic GALC mutations including a deep intronic variant.
Nicita F et al.
European Journal of Human Genetics : Ejhg, 2022
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 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
Exome first approach to reduce diagnostic costs and time - retrospective analysis of 111 individuals with rare neurodevelopmental disorders.
Klau J et al.
European Journal of Human Genetics : Ejhg, 2022
Clinical and molecular findings in 6 Turkish cases with Krabbe disease.
Aslanger AD et al.
The Turkish Journal of Pediatrics, 2022
A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy.
Wu G et al.
Frontiers in Neuroscience, 2022
Advances in the Diagnosis and Treatment of Krabbe Disease.
Wenger DA et al.
International Journal of Neonatal Screening, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 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 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
Natural history of Krabbe disease - a nationwide study in Germany using clinical and MRI data.
Krieg SI et al.
Orphanet Journal of Rare Diseases, 2020
Krabbe disease successfully treated via monotherapy of intrathecal gene therapy.
Bradbury AM et al.
The Journal of Clinical Investigation, 2020
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 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
Genotype and phenotype classification of 29 patients affected by Krabbe disease.
Madsen AMH et al.
Jimd Reports, 2019
Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.
Beltran-Quintero ML et al.
Orphanet Journal of Rare Diseases, 2019
A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life.
Bascou N et al.
Orphanet Journal of Rare Diseases, 2018
Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.
Zhao S et al.
Clinical Genetics, 2018
Analysis of age-related changes in psychosine metabolism in the human brain.
Marshall MS et al.
Plos One, 2018
The use of targeted genomic capture and massively parallel sequencing in diagnosis of Chinese Leukoencephalopathies.
Wang X et al.
Scientific Reports, 2016
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.
Spratley SJ et al.
Traffic (copenhagen, Denmark), 2016
Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports.
Vargiami E et al.
Balkan Journal of Medical Genetics : Bjmg, 2016
Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.
Shin D et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Spectrum of neurodevelopmental disabilities: a cohort study in hungary.
Gergev G et al.
Journal of Child Neurology, 2015
History, genetic, and recent advances on Krabbe disease.
Graziano AC et al.
Gene, 2015
Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Tappino B et al.
Human Mutation, 2010