Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance-Reference-Cited by-同舟云学术

Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance

Published:2014-09-05 Issue:2 Volume:88 Page:161-166
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Smid B.E.¹,Hollak C.E.M.¹,Poorthuis B.J.H.M.²,van den Bergh Weerman M.A.³,Florquin S.³,Kok W.E.M.⁴,Lekanne Deprez R.H.⁵,Timmermans J.⁶,Linthorst G.E.¹

Affiliation:

1. Department of Endocrinology and Metabolism; Academic Medical Centre of Amsterdam; Amsterdam The Netherlands

2. Department of Genetic Metabolic Diseases; Academic Medical Centre of Amsterdam; Amsterdam The Netherlands

3. Department of Pathology; Academic Medical Centre of Amsterdam; Amsterdam The Netherlands

4. Department of Cardiology; Academic Medical Centre of Amsterdam; Amsterdam The Netherlands

5. Department of Clinical Genetics; Academic Medical Centre of Amsterdam; Amsterdam The Netherlands

6. Department of Cardiology; RadboudUMC; Nijmegen The Netherlands

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference15 articles.

1. Plasma globotriaosylsphingosine: Diagnostic value and relation to clinical manifestations of Fabry disease;Rombach;Biochim Biophys Acta,2010

2. Mutant alpha-galactosidase A with M296I does not cause elevation of the plasma globotriaosylsphingosine level;Mitobe;Mol Genet Metab,2012

3. Effects of enzyme replacement therapy for cardiac-type Fabry patients with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G > A);Lin;BMJ Open,2013

4. Gene mutations versus clinically relevant phenotypes: Lyso-Gb3 defines Fabry disease;Niemann;Circ Cardiovasc Genet,2014

5. Functional characterisation of alpha-galactosidase A mutations as a basis for a new classification system in Fabry disease;Lukas;PLoS Genet,2013

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