Associated Papers
Clinical and molecular characterization of Krabbe disease in Iranian patients: case report and literature review.
Asgari P et al.
Bmc Neurology, 2026
Development of national biobank for lysosomal storage disorders in India- a step towards advancing research and precision medicine.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2026
Abnormal Splicing of GALC Transcripts Underlies Unusual Cases of Krabbe Disease.
Domínguez-Ruiz M et al.
Biomedicines, 2025
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
High Prevalence of GALC Gene Variants in Adults With Neurodegenerative Conditions.
Feo F et al.
European Journal of Neurology, 2025
A method to comprehensively identify germline SNVs, INDELs and CNVs from whole exome sequencing data of BRCA1/2 negative breast cancer patients.
Bianchi A et al.
Nar Genomics and Bioinformatics, 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
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
A novel mutation in the GALC gene causes Krabbe disease accompanied with extensive Mongolian spots in a consanguineous family.
Jia W et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2023
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Senkevich K et al.
Brain : a Journal of Neurology, 2023
An autopsy case report of adult-onset Krabbe disease: Comparison with an infantile-onset case.
Sasaki M et al.
Pathology International, 2022
Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard.
Kirk EP et al.
Journal of Inherited Metabolic Disease, 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
Advances in the Diagnosis and Treatment of Krabbe Disease.
Wenger DA et al.
International Journal of Neonatal Screening, 2021
Newborn Screening for Krabbe Disease-Illinois Experience: Role of Psychosine in Diagnosis of the Disease.
Basheeruddin K et al.
International Journal of Neonatal Screening, 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
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y 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
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Inter-lab concordance of variant classifications establishes clinical validity of expanded carrier screening.
Kaseniit KE et al.
Clinical Genetics, 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
Analysis of age-related changes in psychosine metabolism in the human brain.
Marshall MS et al.
Plos One, 2018
Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease.
Saavedra-Matiz CA et al.
Journal of Neuroscience Research, 2016
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.
Spratley SJ et al.
Traffic (copenhagen, Denmark), 2016
Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry.
Elliott S et al.
Molecular Genetics and Metabolism, 2016
Later onset phenotypes of Krabbe disease: results of the world-wide registry.
Duffner PK et al.
Pediatric Neurology, 2012
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Molecular heterogeneity of Krabbe disease.
Fu L et al.
Journal of Inherited Metabolic Disease, 1999
Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease.
Thompson-Stone R et al.
Molecular Genetics and Metabolism, 0