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■ Abbreviation / Long Form : GAA / alpha-glucosidase gene

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Total Number of Papers: 17
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Abbreviation:   GAA  (>> Co-occurring Abbreviation)
Long Form:   alpha-glucosidase gene
 Abbreviation Variation
 Long Form Variation
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No. Year Title Co-occurring Abbreviation
2019 Progress and challenges of gene therapy for Pompe disease. ERT, PD
2018 Identification of Seven Novel Mutations in the Acid Alpha-glucosidase Gene in Five Chinese Patients with Late-onset Pompe Disease. LOPD
2017 E7 (1057DeltaTA) mutation of the acidic alpha-glucosidase gene causes Pompe's disease in Droughtmaster cattle. ---
2017 Prevalence of late-onset pompe disease in Portuguese patients with diaphragmatic paralysis - DIPPER study. DBS
2015 Late onset form of Pompe disease. ---
2014 A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease). ---
2014 Genotype-phenotype correlation in Pompe disease, a step forward. ---
2010 CRIM-negative infantile Pompe disease: 42-month treatment outcome. anti-IgE, CNS, CRIM, ERT, MRI, rhGAA
2008 p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease? ---
10  2008 Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating. ---
11  2004 Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II. ---
12  1998 Generalized glycogen storage and cardiomegaly in a knockout mouse model of Pompe disease. GSDII
13  1997 Mutation detection in glycogen storage-disease type II by RT-PCR and automated sequencing. GSDII
14  1996 Homozygous deletion of exon 18 leads to degradation of the lysosomal alpha-glucosidase precursor and to the infantile form of glycogen storage disease type II. GSDII
15  1994 Deletion of exon 18 is a frequent mutation in glycogen storage disease type II. ---
16  1994 The effect of a single base pair deletion (delta T525) and a C1634T missense mutation (pro545leu) on the expression of lysosomal alpha-glucosidase in patients with glycogen storage disease type II. ---
17  1991 An XbaI restriction site polymorphism in the acid alpha-glucosidase gene (GAA). ---