A validated disease severity scoring system for Fabry disease. (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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David G Warnock

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author name string

Edward H Giannini

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Atul B Mehta

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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

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Michael West

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Dominique P Germain

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Christoph Wanner

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Stephen Waldek

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Joe T R Clarke

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Jörg M Strotmann

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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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page(s)

283-290

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issue

3

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Enzymatic Defect in Fabry's Disease

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Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

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

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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