RPL36A-HNRNPH2
|
0.100 |
GeneticVariation
|
disease |
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
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Identification of a Missense Mutation in the α-galactosidase A Gene in a Chinese Family with Fabry Disease.
|
29491734 |
2018 |
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Female Fabry disease patients and X-chromosome inactivation.
|
29079200 |
2018 |
RPL36A-HNRNPH2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age.
|
29867742 |
2018 |
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Conjunctival lymphangiectasia associated with classic Fabry disease.
|
28500230 |
2018 |
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.
|
29018006 |
2017 |
RPL36A-HNRNPH2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Impact of immunosuppressive therapy on therapy-neutralizing antibodies in transplanted patients with Fabry disease.
|
28682471 |
2017 |
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy.
|
28672034 |
2017 |
RPL36A-HNRNPH2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
|
27979989 |
2017 |
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.
|
27979989 |
2017 |
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease.
|
28082092 |
2017 |
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
|
27532257 |
2017 |
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease.
|
28377241 |
2017 |
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Newborn screening for six lysosomal storage disorders in a cohort of Mexican patients: Three-year findings from a screening program in a closed Mexican health system.
|
28302345 |
2017 |
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Mutational analysis of the GLA gene in Mexican families with Fabry disease.
|
28360401 |
2017 |
RPL36A-HNRNPH2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
Fabry disease: Four case reports of meningioma and a review of the literature on other malignancies.
|
28649509 |
2017 |
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
A novel mutation of α-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family.
|
27211852 |
2017 |
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
|
27657681 |
2017 |
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease.
|
28430823 |
2017 |
RPL36A-HNRNPH2
|
0.100 |
GeneticVariation
|
disease |
CLINVAR |
The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat.
|
27657681 |
2017 |
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Reduction of podocyte globotriaosylceramide content in adult male patients with Fabry disease with amenable GLA mutations following 6 months of migalastat treatment.
|
28756410 |
2017 |
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Fabry disease due to D313Y and novel GLA mutations.
|
28988177 |
2017 |
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy.
|
27554049 |
2017 |
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Fabry Disease: An Uncommon Cause of Renal Failure.
|
28389313 |
2017 |
RPL36A-HNRNPH2
|
0.100 |
CausalMutation
|
disease |
CLINVAR |
Urinary Podocyte Loss Is Increased in Patients with Fabry Disease and Correlates with Clinical Severity of Fabry Nephropathy.
|
27992580 |
2016 |