טוען...
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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| Main Authors: | , , , , , , , , |
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| פורמט: | Artigo |
| שפה: | Inglês |
| יצא לאור: |
BioMed Central
2013
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| נושאים: | |
| גישה מקוונת: | 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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