KEGG   VARIANT: 2548v1
Entry
2548v1                      Variant                                
Name
GAA deficiency
Gene
GAA  alpha glucosidase [KO:K12316]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 606800
Network
nt06017  Glycogen metabolism
Disease
H01940  Glycogen storage disease type II
Drug target
Alglucosidase alfa: D03207<JP/US>
Avalglucosidase alfa: D11744<JP/US>
Cipaglucosidase alfa: D11798<US>
Reference
PMID:20080426
  Authors
Labrousse P, Chien YH, Pomponio RJ, Keutzer J, Lee NC, Akmaev VR, Scholl T, Hwu WL
  Title
Genetic heterozygosity and pseudodeficiency in the Pompe disease newborn screening pilot program.
  Journal
Mol Genet Metab 99:379-83 (2010)
DOI:10.1016/j.ymgme.2009.12.014
LinkDB

DBGET integrated database retrieval system