Misdiagnosis in Fabry Disease-Reference-Cited by-同舟云学术

Misdiagnosis in Fabry Disease

Published:2010-05 Issue:5 Volume:156 Page:828-831
ISSN:0022-3476
Container-title:The Journal of Pediatrics
language:en
Short-container-title:The Journal of Pediatrics

Author:

Marchesoni Cintia L.,Roa Norma,Pardal Ana María,Neumann Pablo,Cáceres Guillermo,Martínez Pablo,Kisinovsky Isaac,Bianchi Silvia,Tarabuso Ana Lía,Reisin Ricardo C.

Publisher

Elsevier BV

Subject

Pediatrics, Perinatology, and Child Health

Reference33 articles.

1. Fabry's disease: classification as a sphingolipidosis and partial characterization of a novel glycolipid;Sweeley;J Biol Chem,1963

2. Elevated globotriaosylsphingosine is a hallmark of Fabry disease;Aerts;Proc Natl Acad Sci USA,2008

3. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males;MacDermot;J Med Genet,2001

4. Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females;MacDermot;J Med Genet,2001

5. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey;Mehta;Eur J Clin Invest,2004

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