(Q48943661)

17 February 2018

title

A validated disease severity scoring system for Fabry disease. (English)

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15

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Eugen Mengel

12

object named as

Eugen Mengel

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14

David G Warnock

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author name string

Edward H Giannini

1

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Atul B Mehta

2

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Max J Hilz

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Michael Beck

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Daniel G Bichet

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Roscoe O Brady

6

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Michael West

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Dominique P Germain

8

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Christoph Wanner

9

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Stephen Waldek

10

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Joe T R Clarke

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Jörg M Strotmann

13

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publication date

30 October 2009

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Molecular Genetics and Metabolism

published in

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volume

99

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issue

3

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page(s)

283-290

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Enzymatic Defect in Fabry's Disease

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Natural history of Fabry disease in females in the Fabry Outcome Survey.

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Nephropathy in males and females with Fabry disease: cross-sectional description of patients before treatment with enzyme replacement therapy.

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Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life.

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Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

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Prevalence of lysosomal storage disorders

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

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Characterization of Fabry disease in 352 pediatric patients in the Fabry Registry

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Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey.

7 January 2021

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Fabry disease: progression of nephropathy, and prevalence of cardiac and cerebrovascular events before enzyme replacement therapy

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Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey.

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Stroke in Fabry disease frequently occurs before diagnosis and in the absence of other clinical events: natural history data from the Fabry Registry

7 January 2021

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Patients affected with Fabry disease have an increased incidence of progressive hearing loss and sudden deafness: an investigation of twenty-two hemizygous male patients.

7 January 2021

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7 January 2021

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Diagnostic utility of different MRI and MR angiography measures in Fabry disease

7 January 2021

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Differential assay for lysosomal alpha-galactosidases in human tissues and its application to Fabry's disease

7 January 2021

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Screening for Fabry disease using whole blood spots fails to identify one-third of female carriers

7 January 2021

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7 January 2021

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7 January 2021

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Fabry disease, an under-recognized multisystemic disorder: expert recommendations for diagnosis, management, and enzyme replacement therapy

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7 January 2021

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Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

7 January 2021

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Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease

7 January 2021

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7 January 2021

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The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy.

7 January 2021

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Clinical global impressions in Alzheimer's clinical trials.

7 January 2021

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inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2009.10.178

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17 February 2018

PubMed ID

19951842

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17 February 2018