Frequency of Fabry disease in male and female haemodialysis patients in Spain.

Frequency of Fabry disease in male and female haemodialysis patients in Spain.

Item
http://www.wikidata.org/entity/Q33528164
A distinct urinary biomarker pattern characteristic of female Fabry patients that mirrors response to enzyme replacement therapyMultifocal white matter lesions associated with the D313Y mutation of the α-galactosidase A geneThe alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.Idiopathic small fiber neuropathy: phenotype, etiologies, and the search for fabry diseaseToward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.Exploratory screening for Fabry's disease in young adults with cerebrovascular disorders in northern Sardinia.Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease.Screening of male dialysis patients for fabry disease by plasma globotriaosylsphingosine.Descriptive epidemiology of Fabry disease among beneficiaries of the Specified Disease Treatment Research Program in Japan.Genetic Screening of Mutations Associated with Fabry Disease in a Nationwide Cohort of Juvenile Idiopathic Arthritis Patients.A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.Difficulties and barriers in diagnosing Fabry disease: what can be learnt from the literature?Prevalence of Fabry disease in dialysis patients: Japan Fabry disease screening study (J-FAST).The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group.Screening of Fabry disease in patients with end-stage renal disease of unknown etiology: the first Thailand study.Fabry disease due to D313Y and novel GLA mutations.
P2860

Frequency of Fabry disease in male and female haemodialysis patients in Spain.

Item
http://www.wikidata.org/entity/Q33528164
description
2010 nî lūn-bûn
@nan
2010 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Frequency of Fabry disease in male and female haemodialysis patients in Spain.
@ast
Frequency of Fabry disease in male and female haemodialysis patients in Spain.
@en
Frequency of Fabry disease in male and female haemodialysis patients in Spain.
@nl
type
label
Frequency of Fabry disease in male and female haemodialysis patients in Spain.
@ast
Frequency of Fabry disease in male and female haemodialysis patients in Spain.
@en
Frequency of Fabry disease in male and female haemodialysis patients in Spain.
@nl
prefLabel
Frequency of Fabry disease in male and female haemodialysis patients in Spain.
@ast
Frequency of Fabry disease in male and female haemodialysis patients in Spain.
@en
Frequency of Fabry disease in male and female haemodialysis patients in Spain.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P6179
P698
P932
P356
P1433
P1476
Frequency of Fabry disease in male and female haemodialysis patients in Spain.
@en
P2093
P2860
P2888
P304
P31
P356
P478
P50
P577
P5875
P6179
P698
P932