Analysis of biceps biopsies from untreated patients with infantile-onset Pompe. Pompe disease is a genetic disorder resulting from lysosomal acid alpha-glucosidase (GAA) deficiency; the severest form affects infants. Results provide insight into the molecular basis of infantile-onset Pompe disease.
GPL570:
[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array
Citation:
Palermo AT, Palmer RE, So KS, Oba-Shinjo SM et al. Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients. Mol Genet Metab 2012 Jul;106(3):287-300. PMID: 22658377
