Výsledky vyhledávání - "Curlis, Yvette M."

Attitudes towards newborn screening for Pompe disease among affected adults, family members and parents of 'healthy' children

Autor: Curlis, Yvette M.

Publikováno v: Connect to thesis.

Thesis (Ph.D.)--University of Melbourne, Dept. of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, 2010.
Typescript. Includes bibliographical references (p. 101-111)

Externí odkaz: http://repository.unimelb.edu.au/10187/7065

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Attitudes towards newborn screening for Pompe disease among affected adults, family members and parents of 'healthy' children

Autor: Curlis, Yvette M.

Pompe disease is a rare autosomal recessive condition caused by a deficiency in lysosomal alpha glucosidase. It is a progressive and often fatal muscular disease with wide variation in clinical presentation. Two broad clinical categories of Pompe dis

Externí odkaz: http://repository.unimelb.edu.au/10187/7065

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