×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
Biomarker
GENOMICS_ENGLAND
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
"Questioning the Pathogenic Role of the GLA p.Ala143Thr ""Mutation"" in Fabry Disease: Implications for Screening Studies and ERT."
23430526
2013
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
Biomarker
CTD_human
α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.
22773828
2012
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.
22773828
2012
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
AlteredExpression
BEFREE
Fabry disease is an X-linked inborn error of glycosphingolipid metabolism resulting from deficient activity of the lysosomal hydrolase alpha-galactosidase A (alpha-Gal A ) enzyme.
10069717
1999
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
AlteredExpression
BEFREE
Fabry disease (FD ) is an X-linked recessive disorder caused by the deficient activity of the lysosomal enzyme alpha-galactosidase A (alpha-Gal A).
10360396
1999
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
Biomarker
BEFREE
Fabry disease is a lysosomal storage disorder that is due to a deficiency in alpha-galactosidase A (alpha-gal A).
10390190
1999
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
Biomarker
BEFREE
Fabry disease : preclinical studies demonstrate the effectiveness of alpha-galactosidase A replacement in enzyme-deficient mice.
11115376
2001
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
Biomarker
BEFREE
Fabry disease is a lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A).
11226298
2001
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
Fabry disease is a lipid storage disorder resulting from mutations in the gene encoding the enzyme alpha-galactosidase A (alpha-gal A ; EC ).
11248095
2001
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
Biomarker
BEFREE
Fabry disease is an X-linked recessive disorder caused by a deficiency in the lysosomal enzyme alpha-galactosidase A , which results in a progressive multisystem disease.
11531969
2001
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Fabry disease : 20 novel GLA mutations in 35 families.
11668641
2001
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
LHGDN
Fabry disease : 20 novel GLA mutations in 35 families.
11668641
2001
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
CLINVAR
Fabry disease : 20 novel GLA mutations in 35 families.
11668641
2001
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
UNIPROT
Fabry disease : 20 novel GLA mutations in 35 families.
11668641
2001
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
Biomarker
BEFREE
Fabry disease is an X-linked recessive disorder caused by a deficiency of the lysosomal hydrolase alpha-galactosidase A (alpha-gal).
12162373
2002
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
AlteredExpression
BEFREE
Fabry's disease is an X linked inborn error of metabolism due to deficient activity of the lysosomal enzyme alpha galactosidase A .
12185177
2002
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
AlteredExpression
BEFREE
Fabry's disease is an X-linked recessive inborn error of glycosphingolipid catabolism resulting from deficient activity of lysosomal enzyme alpha-galactosidase A causing occlusive microvascular diseases affecting the kidney, heart, peripheral nerves and brain.
12480979
2003
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
AlteredExpression
BEFREE
Fabry disease (FD, OMIM 301500) is an X-linked disorder of glycosphingolipid metabolism resulting from the deficient activity of alpha-galactosidase A , a lysosomal acid hydrolase, leading to progressive lysosomal accumulation of incompletely metabolized neutral glycosphingolipids.Cardiac involvement is frequent.
12519371
2003
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
Biomarker
BEFREE
Fabry disease is an X-linked recessive inborn metabolic disorder characterized by systemic and vascular accumulation of globotriaosylceramide (Gb(3)) caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (alpha-gal A).
12624185
2003
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
Biomarker
BEFREE
Fabry disease is a lysosomal storage disease arising from deficiency of the enzyme alpha-galactosidase A .
12626384
2003
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
GeneticVariation
BEFREE
Anderson-Fabry disease (AFd ) is a rare X-linked lisosomal storage disorder of glycosphingolipid (GL) metabolism, caused by a deficiency of the activity of alpha-galactosidase A (alpha-gal A).
12774774
2003
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
Biomarker
BEFREE
Fabry disease is an X-linked recessive lysosomal storage disease resulting from deficient alpha-galactosidase A (alpha-Gal A) activity.
12911529
2003
×
Entrez Id:
2717
Gene Symbol:
GLA
GLA
Fabry Disease
1.000
CausalMutation
CLINVAR
Fabry disease , an X-linked inborn error of glycosphingolipid catabolism, results from mutations in the alpha-galactosidase A gene (GLA).
12938095
2003