×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Large-scale study of clinical and biochemical characteristics of Chinese patients diagnosed with Krabbe disease.
28598007
2018
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
A novel homozygous GALC variant has been associated with Krabbe disease in a consanguineous family.
30209698
2018
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Precision newborn screening for lysosomal disorders.
29120458
2018
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.
28976722
2018
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.
28600779
2017
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Compound heterozygosity in the GALC gene in a late onset Iranian patient with spastic paraparesis, peripheral neuropathy and leukoencephalopathy.
28547031
2017
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.
26865610
2016
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Newborn screening for Krabbe disease in New York State: the first eight years' experience.
26795590
2016
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.
27126738
2016
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease.
27780934
2016
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.
26108647
2016
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
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.
27638593
2016
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.
26865610
2016
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
New therapeutic approaches for Krabbe disease: The potential of pharmacological chaperones.
27638604
2016
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease.
27780934
2016
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.
27126738
2016
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings.
26108647
2016
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease.
27679535
2016
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports.
27785412
2016
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Predominant Corticospinal Tract Involvement in a Late Infant with Krabbe Disease.
27679535
2016
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Mutations in GALC cause Krabbe disease .This autosomal recessive leukodystrophy generally presents in early infancy as a severe disorder, but sometimes manifests as a milder adult-onset disease with spastic paraplegia as the main symptom.
26915362
2016
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
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.
27638593
2016
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Newborn screening for Krabbe disease in New York State: the first eight years' experience.
26795590
2016
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
History, genetic, and recent advances on Krabbe disease.
25260228
2015
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Compound Galactosylceramidase Gene (GALC) Heterozygosity in a Boy with Infantile Krabbe Disease (KD).
27442402
2015