|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy.
|
27992580 |
2016 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
A male Fabry disease patient treated with intravenous thrombolysis for acute ischemic stroke.
|
25439755 |
2015 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Molecular analysis in Fabry disease in Spain: fifteen novel GLA mutations and identification of a homozygous female.
|
12938095 |
2003 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?
|
25407461 |
2015 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.
|
25040344 |
2015 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
|
29018006 |
2017 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.
|
18154965 |
2007 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
|
21598360 |
2011 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease.
|
28682471 |
2017 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.
|
27595546 |
2016 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes.
|
11804208 |
2001 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
The pharmacological chaperone 1-deoxygalactonojirimycin increases alpha-galactosidase A levels in Fabry patient cell lines.
|
19387866 |
2009 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
|
28672034 |
2017 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
|
15776423 |
2005 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Characterization of two alpha-galactosidase mutants (Q279E and R301Q) found in an atypical variant of Fabry disease.
|
10838196 |
2000 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.
|
8875188 |
1996 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the alpha-galactosidase A gene in the Czech and Slovak population.
|
15806320 |
2005 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Adipocytes participate in storage in α-galactosidase deficiency (Fabry disease).
|
20628902 |
2010 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Fabry disease: identification of novel alpha-galactosidase A mutations and molecular carrier detection by use of fluorescent chemical cleavage of mismatches.
|
10208848 |
1999 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Prevalence of fabry disease in a cohort of 508 unrelated patients with hypertrophic cardiomyopathy.
|
18154965 |
2007 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.
|
22773828 |
2012 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Glucosylceramide synthase inhibition with lucerastat lowers globotriaosylceramide and lysosome staining in cultured fibroblasts from Fabry patients with different mutation types.
|
29982630 |
2018 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Pharmacological chaperone therapy for Fabry disease.
|
22241068 |
2012 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Gastrointestinal involvement in Fabry disease. So important, yet often neglected.
|
26333625 |
2016 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
[A boy with Fabry disease with the onset at the age of four].
|
23591357 |
2013 |