Mucopolysaccharidosis type II in females and response to enzyme replacement therapy-Reference-Cited by-同舟云学术

Mucopolysaccharidosis type II in females and response to enzyme replacement therapy

Published:2012-01-13 Issue:2 Volume:158A Page:450-454
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Jurecka Agnieszka,Krumina Zita,Żuber Zbigniew,Różdżyńska-Świątkowska Agnieszka,Kłoska Anna,Czartoryska Barbara,Tylki-Szymańska Anna

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference28 articles.

1. First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: Case observations from the Hunter Outcome Survey (HOS);Alcalde-Martin;Eur J Med Genet,2010

2. Full expression of Hunter's disease in a female with an X-chromosome deletion leading to non-random inactivation;Broadhead;Clin Genet,1986

3. Hunter disease (mucopolysaccharidosis type II) associated with unbalanced inactivation of the X chromosomes in a karyotypically normal girl;Clarke;Am J Hum Genet,1991

4. MPS II in females: Molecular basis of two different cases;Cudry;J Med Genet,2000

5. Are MPS II heterozygotes actually asymptomatic? A study based on clinical and biochemical data, X-inactivation analysis and imaging evaluations;de Camargo Pinto;Am J Med Genet Part A,2011

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