Associated Papers
Long-term neurological outcome after hematopoietic stem cell transplant in juvenile Krabbe disease.
Anna A et al.
Journal of Neurology, 2026
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
A CSPP1 variant associated with metabolic dysfunction in Joubert syndrome: a case report.
Acosta-Paguada LF et al.
Journal of Medical Case Reports, 2025
Activated PI3K Delta Syndrome: A Case Presentation and Literature Review.
López Méndez A et al.
Cureus, 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
A case of acid sphingomyelinase deficiency type B with prominent histiocytes with engulfed nucleated cells and compound heterozygosity.
Gedallovich J et al.
Journal of Hematopathology, 2025
The molecular landscape of hereditary ataxia: a single-center study.
Bregant E et al.
Human Genetics, 2025
Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study.
Naamneh Elzenaty R et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
RLIM-specific activity reporters define variant pathogenicity in Tonne-Kalscheuer syndrome.
Bandi V et al.
Hgg Advances, 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
NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor.
Naamneh Elzenaty R et al.
International Journal of Molecular Sciences, 2024
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
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
Combination of 15q24 Microdeletion Syndrome and Metabolic Imbalance in a Patient with Atypical Autism.
Stefanyshyn V et al.
Journal of Molecular Neuroscience : Mn, 2024
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.
Kouri C et al.
Ebiomedicine, 2024
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.
Senkevich K et al.
Brain : a Journal of Neurology, 2023
Genetic architecture of the inflammatory bowel diseases across East Asian and European ancestries.
Liu Z et al.
Nature Genetics, 2023
Globoid Cell Leukodystrophy (Krabbe Disease): An Update.
Maghazachi AA
Immunotargets and Therapy, 2023
Galactosylceramidase deficiency and pathological abnormalities in cerebral white matter of Krabbe disease.
Iacono D et al.
Neurobiology of Disease, 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
Clinical and molecular findings in 6 Turkish cases with Krabbe disease.
Aslanger AD et al.
The Turkish Journal of Pediatrics, 2022
Advances in the Diagnosis and Treatment of Krabbe Disease.
Wenger DA et al.
International Journal of Neonatal Screening, 2021
Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report.
Corre CS 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
Next-Generation Molecular Investigations in Lysosomal Diseases: Clinical Integration of a Comprehensive Targeted Panel.
Sudrié-Arnaud B et al.
Diagnostics (basel, Switzerland), 2021
Mutations in sphingolipid metabolism genes are associated with ADHD.
Henriquez-Henriquez M et al.
Translational Psychiatry, 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
Report of a Case that Expands the Phenotype of Infantile Krabbe Disease.
Nashabat M et al.
The American Journal of Case 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
Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.
Calender A et al.
Bmc Medical Genomics, 2018
Analysis of age-related changes in psychosine metabolism in the human brain.
Marshall MS et al.
Plos One, 2018
Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.
Cho Y et al.
Scientific Reports, 2017
Late onset Krabbe disease due to the new GALC p.Ala543Pro mutation, with intriguingly high residual GALC activity in vitro.
Krägeloh-Mann I et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2017
Analysis of protein-coding genetic variation in 60,706 humans.
Lek M et al.
Nature, 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
The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.
Dimitriou E et al.
Jimd Reports, 2016
History, genetic, and recent advances on Krabbe disease.
Graziano AC et al.
Gene, 2015
Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.
Hossain MA et al.
Gene, 2014
Analysis of the inheritance pattern of a Chinese family with phaeochromocytomas through whole exome sequencing.
Cao M et al.
Gene, 2013