Literature DB >> 11758673

Natural history of Fabry disease in affected males and obligate carrier females.

K D MacDermot1, A Holmes, A H Miners.   

Abstract

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Year:  2001        PMID： 11758673     DOI： 10.1023/a:1012447102358

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  23 in total

1.  Increased arterial stiffness is associated with high cardiovascular mortality in male Fabry patients.

Authors:  Kathleen Nicholls
Journal:  J Inherit Metab Dis       Date:  2011-12-14       Impact factor: 4.982

Review 2.  Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases.

Authors:  Harjot K Saini-Chohan; Ryan W Mitchell; Frédéric M Vaz; Teresa Zelinski; Grant M Hatch
Journal:  J Lipid Res       Date:  2011-11-07       Impact factor: 5.922

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

Authors:  P B Deegan; A F Baehner; M-A Barba Romero; D A Hughes; C Kampmann; M Beck
Journal:  J Med Genet       Date:  2005-10-14       Impact factor: 6.318

4.  The ratio of alpha-galactosidase to beta-glucuronidase activities in dried blood for the identification of female Fabry disease patients.

Authors:  Z Lukacs; A Keil; A Kohlschütter; M Beck; E Mengel
Journal:  J Inherit Metab Dis       Date:  2005       Impact factor: 4.982

5.  ACE activity is modulated by the enzyme α-galactosidase A.

Authors:  Elice Carneiro Batista; Luiz Roberto Carvalho; Dulce Elena Casarini; Adriana Karaoglanovic Carmona; Edson Lucas dos Santos; Elton Dias da Silva; Robson Augusto dos Santos; Clovis Ryuichi Nakaie; Maria Verônica Munoz Rojas; Suzana Macedo de Oliveira; Michael Bader; Vânia D'Almeida; Ana Maria Martins; Kely de Picoly Souza; João Bosco Pesquero
Journal:  J Mol Med (Berl)       Date:  2010-10-13       Impact factor: 4.599

6.  Elevated globotriaosylsphingosine is a hallmark of Fabry disease.

Authors:  Johannes M Aerts; Johanna E Groener; Sijmen Kuiper; Wilma E Donker-Koopman; Anneke Strijland; Roelof Ottenhoff; Cindy van Roomen; Mina Mirzaian; Frits A Wijburg; Gabor E Linthorst; Anouk C Vedder; Saskia M Rombach; Josanne Cox-Brinkman; Pentti Somerharju; Rolf G Boot; Carla E Hollak; Roscoe O Brady; Ben J Poorthuis
Journal:  Proc Natl Acad Sci U S A       Date:  2008-02-19       Impact factor: 11.205

Review 7.  Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.

Authors:  Louise L C Pinto; Taiane A Vieira; Roberto Giugliani; Ida V D Schwartz
Journal:  Orphanet J Rare Dis       Date:  2010-05-28       Impact factor: 4.123

8.  Association between polymorphisms of endothelial nitric oxide synthase gene (NOS3) and left posterior wall thickness (LPWT) of the heart in Fabry disease.

Authors:  I Rohard; E Schaefer; C Kampmann; M Beck; A Gal
Journal:  J Inherit Metab Dis       Date:  2008-10-22       Impact factor: 4.982

9.  Fabry disease and early stroke.

Authors:  U Feldt-Rasmussen
Journal:  Stroke Res Treat       Date:  2011-06-23

10.  Effects of enzyme replacement therapy in adult patients with Fabry disease on cardiac structure and function: a retrospective cohort study of the Fabry Munster Study (FaMuS) data.

Authors:  Markus A Engelen; Eva Brand; Timo B Baumeister; T Marquardt; Thomas Duning; Nani Osada; Roland M Schaefer; Joerg Stypmann
Journal:  BMJ Open       Date:  2012-11-21       Impact factor: 2.692
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