×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Galactosylceramide-beta-galactosidase deficiency in association with cherry red spot.
3362311
1988
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy.
8281145
1993
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Krabbe disease (globoid cell leukodystrophy ) is an autosomal recessive neurodegenerative disorder that affects both the central and peripheral nervous systems due to an enzymatic defect of the galactocerebrosidase .
8595408
1995
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Multiple mutations in the GALC gene in a patient with adult-onset Krabbe disease.
8687180
1996
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Two different mutations are responsible for Krabbe disease in the Druze and Moslem Arab populations in Israel.
8786069
1996
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
We have analyzed the galactocerebrosidase gene in 17 patients (nine families) with late-onset GLD and in 1 patient with classical Krabbe disease .
8940268
1996
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
We have analyzed the galactocerebrosidase gene in 17 patients (nine families) with late-onset GLD and in 1 patient with classical Krabbe disease .
8940268
1996
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Adult-onset Krabbe's disease in siblings with novel mutations in the galactocerebrosidase gene.
9005874
1997
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin.
9266397
1997
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Prevalent mutations in the GALC gene of patients with Krabbe disease of Dutch and other European origin.
9266397
1997
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Adult onset globoid cell leukodystrophy (Krabbe disease ): analysis of galactosylceramidase cDNA from four Japanese patients.
9272171
1997
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Adult onset globoid cell leukodystrophy (Krabbe disease ): analysis of galactosylceramidase cDNA from four Japanese patients.
9272171
1997
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.
9338580
1997
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): diagnostic and clinical implications.
9338580
1997
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Adult-onset Krabbe disease with homozygous T1853C mutation in the galactocerebrosidase gene. Unusual MRI findings of corticospinal tract demyelination.
9371928
1997
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Krabbe disease (globoid cell leukodystrophy ) is an autosomal recessive neurodegenerative disorder that affects both the central and peripheral nervous system due to an enzymatic defect of galactocerebrosidase (GALC ).
10234611
1999
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Protracted course of Krabbe disease in an adult patient bearing a novel mutation.
10448809
1999
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Protracted course of Krabbe disease in an adult patient bearing a novel mutation.
10448809
1999
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Characterization of the GALC gene in three Japanese patients with adult-onset Krabbe disease.
10464649
1999
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Globoid cell leukodystrophy is an autosomal recessive inherited disease caused by deficiency of the lysosomal enzyme galactocerebrosidase (GALC ).
10477434
1999
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Globoid cell leukodystrophy is an autosomal recessive inherited disease caused by deficiency of the lysosomal enzyme galactocerebrosidase (GALC ).
10477434
1999
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease.
11151421
2000
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Deletion of exons 11-17 and novel mutations of the galactocerebrosidase gene in adult- and early-onset patients with Krabbe disease.
11151421
2000
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
CausalMutation
CLINVAR
Early peripheral nervous system manifestations of infantile Krabbe disease.
12699861
2003
×
Entrez Id:
2581
Gene Symbol:
GALC
GALC
Globoid cell leukodystrophy
1.000
GeneticVariation
CLINVAR
Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype-phenotype correlation.
16607461
2006