Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease

Item
http://www.wikidata.org/entity/Q36438566
Embolic Strokes of Unknown Source and Cryptogenic Stroke: Implications in Clinical PracticeFunctional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry diseaseThe alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastatPersistent increase in cardiac troponin I in Fabry disease: a case report.Depletion of globosides and isoglobosides fully reverts the morphologic phenotype of Fabry diseaseStructure-function relationships in alpha-galactosidase A.Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests.Genotype: A Crucial but Not Unique Factor Affecting the Clinical Phenotypes in Fabry Disease.Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry DiseaseGender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey.A thermodynamic assay to test pharmacological chaperones for Fabry disease.Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotypeInter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.Fabry disease
P2860

Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease

Item
http://www.wikidata.org/entity/Q36438566
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年学术文章
@wuu
1999年学术文章
@zh-cn
1999年学术文章
@zh-hans
1999年学术文章
@zh-my
1999年学术文章
@zh-sg
1999年學術文章
@yue
1999年學術文章
@zh
1999年學術文章
@zh-hant
name
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease
@ast
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease
@en
type
label
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease
@ast
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease
@en
prefLabel
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease
@ast
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease
@en
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P577
P698
P932
P356
P1433
P1476
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease
@en
P2093
P2860
P2888
P304
P31
P356
P407
P433
P478
P577
P698
P932