Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease.
about
A distinct urinary biomarker pattern characteristic of female Fabry patients that mirrors response to enzyme replacement therapyFunctional characterisation of alpha-galactosidase a mutations as a basis for a new classification system in fabry diseaseGenetic susceptibility to ischemic stroke.The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.Age at First Cardiac Symptoms in Fabry Disease: Association with a Chinese Hotspot Fabry Mutation (IVS4+919G>A), Classical Fabry Mutations, and Sex in a Taiwanese Population from the Fabry Outcome Survey (FOS).Stroke and Fabry disease.Update on role of agalsidase alfa in management of Fabry disease.Cerebral hemodynamics and endothelial function in patients with Fabry diseasePrevalence of CADASIL and Fabry Disease in a Cohort of MRI Defined Younger Onset Lacunar Stroke.Exploratory screening for Fabry's disease in young adults with cerebrovascular disorders in northern Sardinia.Identification of a novel GLA mutation (Y88C) in a Korean family with Fabry nephropathy: a case report.Homocysteine and erythrocyte sedimentation rate correlate with cerebrovascular disease in fabry disease.Questioning the Pathogenic Role of the GLA p.Ala143Thr "Mutation" in Fabry Disease: Implications for Screening Studies and ERTVariations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma.A Case of Cerebral Aneurysmal Subarachnoid Hemorrhage in Fabry's DiseaseAlpha-Galactosidase A p.A143T, a non-Fabry disease-causing variantSerum Concentrations of Ubiquitin C-Terminal Hydrolase-L1 and Glial Fibrillary Acidic Protein after Pediatric Traumatic Brain InjuryGender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey.Newborn screening for lysosomal storage disorders.Neurological features of Fabry disease: clinical, pathophysiological aspects and therapy.Frequency and etiological diagnosis of ischemic stroke in Chinese young adults.A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.Angiotensinogen promoter and angiotensinogen II receptor type 1 gene polymorphisms and incidence of ischemic stroke and neurologic phenotype in Fabry disease.Difficulties and barriers in diagnosing Fabry disease: what can be learnt from the literature?Neurocutaneous Disorders for the Practicing Neurologist: a Focused Review.Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.Fabry Disease: Recognition, Diagnosis, and Treatment of Neurological Features.Screening for Fabry's disease in young patients with ischemic stroke in a Chinese population.Risk factors, aetiology and outcome of ischaemic stroke in young adults: the Swiss Young Stroke Study (SYSS).Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.Case-finding in Fabry disease: experience from the North of England.p.E66Q mutation in the GLA gene is associated with a high risk of cerebral small-vessel occlusion in elderly Japanese males.Zurich Fabry study - prevalence of Fabry disease in young patients with first cryptogenic ischaemic stroke or TIA.Prevalence of Fabry disease and GLA c.196G>C variant in Japanese stroke patients.Improved hearing with cochlear implantation in Fabry's disease.Fabry nephropathy: indications for screening and guidance for diagnosis and treatment by the European Renal Best Practice.Fabry disease in unselected patients with TIA or stroke: population-based study.Galactosidase Alpha p.A143T Variant Fabry Disease May Result in a Phenotype With Multifocal Microvascular Cerebral Involvement at a Young Age.Fabry diseaseFinding effective biomarkers for pediatric traumatic brain injury
P2860
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P2860
Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease.
description
2010 nî lūn-bûn
@nan
2010年の論文
@ja
2010年学术文章
@wuu
2010年学术文章
@zh
2010年学术文章
@zh-cn
2010年学术文章
@zh-hans
2010年学术文章
@zh-my
2010年学术文章
@zh-sg
2010年學術文章
@yue
2010年學術文章
@zh-hant
name
Belgian Fabry study: prevalenc ...... with cerebrovascular disease.
@en
Belgian Fabry study: prevalenc ...... with cerebrovascular disease.
@nl
type
label
Belgian Fabry study: prevalenc ...... with cerebrovascular disease.
@en
Belgian Fabry study: prevalenc ...... with cerebrovascular disease.
@nl
prefLabel
Belgian Fabry study: prevalenc ...... with cerebrovascular disease.
@en
Belgian Fabry study: prevalenc ...... with cerebrovascular disease.
@nl
P2093
P50
P1433
P1476
Belgian Fabry study: prevalenc ...... s with cerebrovascular disease
@en
P2093
Arnaud Fumal
BeFaS Investigators
Christine Van Broeckhoven
François Eyskens
Marleen Van den Broeck
Patricia Redondo
Peter Paul De Deyn
Robert Baker
Sandrine Jeangette
Werner Verslegers
P304
P356
10.1161/STROKEAHA.110.579409
P407
P577
2010-04-01T00:00:00Z