|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry.
|
22227322 |
2012 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.
|
26415523 |
2016 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Five novel mutations in fourteen patients with Fabry Disease.
|
10649504 |
2000 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Frequency of Fabry disease in male and female haemodialysis patients in Spain.
|
20122163 |
2010 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Fabry disease: a new approach for the screening of females in high-risk groups.
|
24582695 |
2014 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
[Genetic and clinical study of three Chinese pedigrees with Fabry disease].
|
23568732 |
2013 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Small fibers in Fabry disease: baseline and follow-up data under enzyme replacement therapy.
|
22176145 |
2011 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
|
18205205 |
2008 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
What lies beneath: Fabry nephropathy in a female patient with severe cerebrovascular disease.
|
23537685 |
2013 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
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 |
Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.
|
25382311 |
2015 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Neuropathic symptoms and findings in women with Fabry disease.
|
18387337 |
2008 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Fabry disease presenting as apical left ventricular hypertrophy in a patient carrying the missense mutation R118C.
|
24661928 |
2014 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Molecular damage in Fabry disease: characterization and prediction of alpha-galactosidase A pathological mutations.
|
25382311 |
2015 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
A carboxy-terminal truncation of human alpha-galactosidase A in a heterozygous female with Fabry disease and modification of the enzymatic activity by the carboxy-terminal domain. Increased, reduced, or absent enzyme activity depending on number of amino acid residues deleted.
|
8878432 |
1996 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
|
27979989 |
2017 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Point mutation in the alpha-galactosidase A gene of atypical Fabry disease with only nephropathy.
|
8738659 |
1996 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
|
25611685 |
2015 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Functional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry disease.
|
23935525 |
2013 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
|
27979989 |
2017 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Histologic abnormalities of placental tissues in Fabry disease: a case report and review of the literature.
|
22078290 |
2012 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
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 |
Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3.
|
18424138 |
2008 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
CausalMutation |
CLINVAR |
Development of a highly sensitive immuno-PCR assay for the measurement of α-galactosidase A protein levels in serum and plasma.
|
24236025 |
2013 |
|
RPL36A-HNRNPH2
|
Fabry Disease
|
0.100 |
GeneticVariation |
CLINVAR |
Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease.
|
27356758 |
2016 |