Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations-Reference-Cited by-同舟云学术

Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations

Published:2010-12-28 Issue:1 Volume:155 Page:50-57
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

de Camargo Pinto Louise Lapagesse,Maluf Sharbel Weidner,Leistner-Segal Sandra,Zimmer da Silva Camila,Brusius-Facchin Ana,Burin Maira Graef,Brustolin Silvia,Llerena Juan,Moraes Lucia,Vedolin Leonardo,Schuch Alice,Giugliani Roberto,Schwartz Ida Vanessa Doederlein

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.33770/fullpdf

Reference59 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen-receptor gene correlates with X chromosome inactivation;Allen;Am J Hum Genet,1992

2. Incidence of inborn errors of metabolism in British Columbia. 1968-1006;Applegarth;Pediatrics,2000

3. Fabry disease: Comparison of enzymatic, linkage and mutation analysis for carrier detection in a family with a novel mutation (30delG);Ashton-Prolla;Am J Med Genet,1999

4. Enzyme replacement therapy in heterozygous females with Fabry disease: Results of a phase IIIB study;Baenher;J Inherit Metab Dis,2003

5. Cumulative incidence of the mucopolysaccharidosis in Germany;Baehner;J Inherit Metab Dis,2005

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