Case-finding in Fabry disease: experience from the North of England.

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Variable phenotypic presentations of renal involvement in Fabry disease: a case series.

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Case-finding in Fabry disease: experience from the North of England.

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2013 nî lūn-bûn

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2013年の論文

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年学术文章

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2013年學術文章

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Case-finding in Fabry disease: experience from the North of England.

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Case-finding in Fabry disease: experience from the North of England.

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type

Item

label

Case-finding in Fabry disease: experience from the North of England.

@en

Case-finding in Fabry disease: experience from the North of England.

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Case-finding in Fabry disease: experience from the North of England.

@en

Case-finding in Fabry disease: experience from the North of England.

@nl

P1476

Case-finding in Fabry disease: experience from the North of England.

@en

P2093

Oliver Parkes

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Paul Brennan

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P2860

High incidence of later-onset fabry disease revealed by newborn screening

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

Screening for Fabry disease in high-risk populations: a systematic review.

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females.

Phenotypical characterization of α-galactosidase A gene mutations identified in a large Fabry disease screening program in stroke in the young.

An audit of clinical service examining the uptake of genetic testing by at-risk family members.

Uptake of Huntington disease predictive testing in a complete population.

Two-tier approach for the detection of alpha-galactosidase A deficiency in a predominantly female haemodialysis population.

Belgian Fabry study: prevalence of Fabry disease in a cohort of 1000 young patients with cerebrovascular disease.

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s10545-013-9629-8

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103-107

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scholarly article

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10.1007/S10545-013-9629-8

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2013-07-05T00:00:00Z

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1015260375

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23828401

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Case-finding in Fabry disease: experience from the North of England.

about

P2860

P2860

Case-finding in Fabry disease: experience from the North of England.

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P1476

P2093

P2860

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P2888

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P698