c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype

Pompe disease, or glycogen storage disease type II (GSD2), an autosomal recessive disease first described by Joannes Cassianus Pompe (1901–1945), causes deficient activity of acid α-glucosidase (GAA) enzyme. GAA catalyses α 1,4 and α 1,6 glucosidic linkages in lysosomes; destruction of these linkage...

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Publicado en:BMJ Case Rep
Main Authors: Morales, Andrés, Poling, Mikaela I, Páez, Marco T, Cabrera, Julio, McCormick, Rodger J
Formato: Artigo
Idioma:Inglês
Publicado: BMJ Publishing Group 2015
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC4499737/
https://ncbi.nlm.nih.gov/pubmed/26160551
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2015-210688
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