Condition: Globoid cell leukodystrophy


rs1009872980 in GALC gene and Globoid cell leukodystrophy PMID 26795590 2016 Newborn screening for Krabbe disease in New York State: the first eight years' experience.

PMID 23319190 2012 Diagnostic difficulties in Krabbe disease: a report of two cases and review of literature.

PMID 9338580 1997 Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.

PMID 8595408 1995 Molecular defects in Krabbe disease.

PMID 8940268 1996 Molecular heterogeneity of late-onset forms of globoid-cell leukodystrophy.

PMID 21876145 2011 Insights into Krabbe disease from structures of galactocerebrosidase.

PMID 10477434 1999 Molecular basis of late-life globoid cell leukodystrophy.

PMID 8786069 1996 Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel.

PMID 17579360 2007 A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region.

PMID 20886637 2010 Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.

PMID 9272171 1997 Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients.

PMID 24252386 2014 Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form.

PMID 10234611 1999 Molecular heterogeneity of Krabbe disease.

PMID 23462331 2013 Four novel GALC gene mutations in two Chinese patients with Krabbe disease.

PMID 25260228 2015 History, genetic, and recent advances on Krabbe disease.

PMID 27638593 2016 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.

PMID 29120458 2018 Precision newborn screening for lysosomal disorders.

PMID 16607461 2006 Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation.

PMID 26865610 2016 Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.

PMID 27780934 2016 Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease.

PMID 27126738 2016 Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.

PMID 27679535 2016 Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease.

PMID 9371928 1997 Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination.

PMID 27638604 2016 New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperones.

PMID 23509109 2013 Cost-effective and scalable DNA extraction method from dried blood spots.

PMID 8687180 1996 Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease.

PMID 23197103 2013 Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review.

PMID 26915362 2016 Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia.

PMID 10464649 1999 Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease.

PMID 26108647 2016 The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.

PMID 22115770 2012 Krabbe disease: clinical, biochemical and molecular information on six new patients and successful retrospective diagnosis using stored newborn screening cards.

PMID 27785412 2016 Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports.

PMID 8281145 1993 Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy.

PMID 30209698 2018 A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.

PMID 22520351 2012 Later onset phenotypes of Krabbe disease: results of the world-wide registry.

PMID 28547031 2017 Compound heterozygosity in the GALC gene in a late onset Iranian patient with spastic paraparesis, peripheral neuropathy and leukoencephalopathy.

PMID 23430802 2013 Stem cell transplantation for adult-onset krabbe disease: report of a case.

PMID 28600779 2017 The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

PMID 28976722 2018 Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.

PMID 21824559 2011 Early infantile Krabbe disease: results of the World-Wide Krabbe Registry.

PMID 23462331 2013 We identified four novel mutations of the GALC gene in two unrelated Chinese families with Krabbe disease: one insertion mutation, c.1836_1837insT, and one nonsense mutation, c.599C>A (p.S200X), in an infantile patient, and one deletion mutation, c.1911+1_1911+5delGTAAG, and one missense mutation, c.2041G>A, in an adult late-onset patient.

PMID 23128445 2012 Child Neurology: Krabbe disease: a potentially treatable white matter disorder.

PMID 20135576 2009 Intracranial calcification after cord blood neonatal transplantation for krabbe disease.

PMID 9266397 1997 Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin.

PMID 23620143 2013 Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease.

PMID 20410102 2010 Molecular characterization of mutations that cause globoid cell leukodystrophy and pharmacological rescue using small molecule chemical chaperones.

PMID 12699861 2003 Early peripheral nervous system manifestations of infantile Krabbe disease.

PMID 24913062 2014 Pharmacological chaperones increase residual β-galactocerebrosidase activity in fibroblasts from Krabbe patients.

PMID 23138179 2013 A high-throughput screening assay using Krabbe disease patient cells.

PMID 22704718 2012 Array CGH improves detection of mutations in the GALC gene associated with Krabbe disease.

PMID 28598007 2018 Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.

PMID 25265039 2014 Increased plasma oligomeric alpha-synuclein in patients with lysosomal storage diseases.

PMID 10448809 1999 Protracted course of Krabbe disease in an adult patient bearing a novel mutation.

PMID 11151421 2000 Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease.

PMID 24297913 2013 Structural snapshots illustrate the catalytic cycle of β-galactocerebrosidase, the defective enzyme in Krabbe disease.

PMID 3362311 1988 Galactosylceramide-beta-galactosidase deficiency in association with cherry red spot.

PMID 19302934 2009 Newborn screening for Krabbe disease: the New York State model.

PMID 16759875 2006 Suppression of galactosylceramidase (GALC) expression in the twitcher mouse model of globoid cell leukodystrophy (GLD) is caused by nonsense-mediated mRNA decay (NMD).

PMID 23462331 2013 We identified four novel mutations of the GALC gene in two unrelated Chinese families with Krabbe disease: one insertion mutation, c.1836_1837insT, and one nonsense mutation, c.599C>A (p.S200X), in an infantile patient, and one deletion mutation, c.1911+1_1911+5delGTAAG, and one missense mutation, c.2041G>A, in an adult late-onset patient.

PMID 27442402 2015 Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD).

PMID 9005874 1997 Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene.