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Items: 4

1.

GAA deficiency (Pompe Disease) in infantile-onset patients

(Submitter supplied) Pompe disease is a genetic disorder resulting from a deficiency of lysosomal acid alpha-glucosidase (GAA) that manifests as a clinical spectrum with regard to symptom severity and rate of progression. In this study, we used microarrays to examine gene expression from the muscle of two cohorts of infantile-onset Pompe patients to identify transcriptional differences that may contribute to the disease phenotype. more...
Organism:
Homo sapiens
Type:
Expression profiling by array
Datasets:
GDS4409 GDS4410
Platform:
GPL570
58 Samples
Download data: CEL
Series
Accession:
GSE38680
ID:
200038680
2.
Full record GDS4409

Infantile-onset Pompe response to recombinant human lysosomal acid alpha-glucosidase (rhGAA) treatment: quadriceps

Analysis of quadriceps biopsies from infantile-onset Pompe disease patients treated with recombinant human lysosomal acid alpha-glucosidase (rhGAA, Myozyme) for up to 52 weeks. Results provide insight into molecular mechanisms underlying the response to therapy (positive vs. poor clinical outcome).
Organism:
Homo sapiens
Type:
Expression profiling by array, transformed count, 2 agent, 2 disease state, 18 individual, 3 other, 4 time sets
Platform:
GPL570
Series:
GSE38680
39 Samples
Download data: CEL
DataSet
Accession:
GDS4409
ID:
4409
3.

[HG-U133_Plus_2] Affymetrix Human Genome U133 Plus 2.0 Array

(Submitter supplied) Affymetrix submissions are typically submitted to GEO using the GEOarchive method described at http://www.ncbi.nlm.nih.gov/projects/geo/info/geo_affy.html June 03, 2009: annotation table updated with netaffx build 28 June 06, 2012: annotation table updated with netaffx build 32 June 23, 2016: annotation table updated with netaffx build 35 Protocol: see manufacturer's web site Complete coverage of the Human Genome U133 Set plus 6,500 additional genes for analysis of over 47,000 transcripts All probe sets represented on the GeneChip Human Genome U133 Set are identically replicated on the GeneChip Human Genome U133 Plus 2.0 Array. more...
Organism:
Homo sapiens
602 DataSets
5671 Series
61 Related Platforms
175585 Samples
Download data
Platform
Accession:
GPL570
ID:
100000570
4.

Quadriceps_Pompe_3_12wks

Organism:
Homo sapiens
Source name:
Quadriceps muscle, Pompe patient, 12 weeks rhGAA treatment
Platform:
GPL570
Series:
GSE38680
Dataset:
GDS4409
Download data: CEL
Sample
Accession:
GSM947494
ID:
300947494
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