Hypertransaminasemia and fatal lung disease: a case report

Glycogenosis type II (Pompe disease) is a rare autosomal recessive genetic disorder caused by mutations in the gene encoding the lysosomal enzyme acid α-glucosidase. The classic form is characterized by severe cardiac involvement, generalized hypotonia and exitus early in life. Presenting symptoms a...

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Detalles Bibliográficos
Autores principales: Santamaria, Francesca, De Stefano, Sara, Montella, Silvia, Maglione, Marco, Della Casa, Roberto, Acampora, Emma, Pignata, Claudio, Salerno, Mariacarolina, Parenti, Giancarlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3598347/
https://www.ncbi.nlm.nih.gov/pubmed/23391190
http://dx.doi.org/10.1186/1824-7288-39-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3598347/
https://www.ncbi.nlm.nih.gov/pubmed/23391190
http://dx.doi.org/10.1186/1824-7288-39-9

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