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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Autors principals: Santamaria, Francesca, De Stefano, Sara, Montella, Silvia, Maglione, Marco, Della Casa, Roberto, Acampora, Emma, Pignata, Claudio, Salerno, Mariacarolina, Parenti, Giancarlo
Format: Artigo
Idioma:Inglês
Publicat: BioMed Central 2013
Matèries:
Case Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3598347/
https://ncbi.nlm.nih.gov/pubmed/23391190
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1824-7288-39-9
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