Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)-Reference-Cited by-同舟云学术

Identification of six novel mutations in the acid alpha-glucosidase gene in three Spanish patients with infantile onset glycogen storage disease type II (Pompe disease)

Published:2002-02 Issue:2 Volume:12 Page:159-166
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Fernandez-Hojas Roberto,Huie Maryann L.,Navarro Carmen,Dominguez Carmen,Roig Manuel,Lopez-Coronas Diana,Teijeira Susana,Anyane-Yeboa Kwame,Hirschhorn Rochelle

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference31 articles.

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2. Clinical diversity in glycogenosis type II;Reuser;J Clin Invest,1987

3. Extensive heterogeneity in patients with Acid Alpha Glucosidase deficiency as detected by abnormalities of DNA and mRNA;Martiniuk;Am J Hum Genet,1990

4. Glycogenosis type II (acid maltase deficiency);Reuser;Muscle Nerve,1995

5. Genetic defects in patients with glycogenosis type II (acid maltase deficiency);Raben;Muscle Nerve,1995

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