Genetic counseling in Pompe disease

Pompe disease is caused by glycogen accumulation due to a deficiency of the lysosomal acid alpha-glucosidase enzyme by which it is degraded. It is a rare disease, accounting for 1:40.000 births. It is inherited as an autosomal recessive trait so that a couple presents a recurrent risk of 25% to have...

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Autores principales: Taglia, Antonella, Picillo, Esther, D'Ambrosio, Paola, Rosaria Cecio, Maria, Viggiano, Emanuela, Politano, Luisa
Formato: Artigo
Lenguaje:Inglês
Publicado: Pacini Editore SpA 2011
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Original Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3298105/
https://ncbi.nlm.nih.gov/pubmed/22616199
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