Associated Papers
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Broad variation in phenotypes for common GAA genotypes in Pompe disease.
Niño MY et al.
Human Mutation, 2021
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Bevilacqua JA et al.
Orphanet Journal of Rare Diseases, 2020
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Kishnani PS et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Niño MY et al.
Human Mutation, 2019
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
Ngiwsara L et al.
Bmc Medical Genetics, 2019
A genetic modifier of symptom onset in Pompe disease.
Bergsma AJ et al.
Ebiomedicine, 2019
A computational method to characterize the missense mutations in the catalytic domain of GAA protein causing Pompe disease.
Thirumal Kumar D et al.
Journal of Cellular Biochemistry, 2019
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
Proteasome Inhibitor Bortezomib Enhances the Activity of Multiple Mutant Forms of Lysosomal α-Glucosidase in Pompe Disease.
Shimada Y et al.
Jimd Reports, 2015
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.
Palermo AT et al.
Molecular Genetics and Metabolism, 2012
The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.
Flanagan JJ et al.
Human Mutation, 2009
Pompe disease in a Brazilian series: clinical and molecular analyses with identification of nine new mutations.
Oba-Shinjo SM et al.
Journal of Neurology, 2009
Molecular diagnosis of German patients with late-onset glycogen storage disease type II.
Joshi PR et al.
Journal of Inherited Metabolic Disease, 2008
Development of a clinical assay for detection of GAA mutations and characterization of the GAA mutation spectrum in a Canadian cohort of individuals with glycogen storage disease, type II.
McCready ME et al.
Molecular Genetics and Metabolism, 2007
The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature.
van den Hout HM et al.
Pediatrics, 2003
Dutch patients with glycogen storage disease type II show common ancestry for the 525delT and del exon 18 mutations.
Ausems MG et al.
Journal of Medical Genetics, 2001
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation.
Laforêt P et al.
Neurology, 2000
The bovine alpha-glucosidase gene: coding region, genomic structure, and mutations that cause bovine generalized glycogenosis.
Dennis JA et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2000
Frequency of glycogen storage disease type II in The Netherlands: implications for diagnosis and genetic counselling.
Ausems MG et al.
European Journal of Human Genetics : Ejhg, 1999
Novel mutations in African American patients with glycogen storage disease Type II. Mutations in brief no. 209. Online.
Raben N et al.
Human Mutation, 1999
Molecular genetic study of Pompe disease in Chinese patients in Taiwan.
Ko TM et al.
Human Mutation, 1999
The African origin of the common mutation in African American patients with glycogen-storage disease type II.
Becker JA et al.
American Journal of Human Genetics, 1998
Glycogen storage disease type II: identification of four novel missense mutations (D645N, G648S, R672W, R672Q) and two insertions/deletions in the acid alpha-glucosidase locus of patients of differing phenotype.
Huie ML et al.
Biochemical and Biophysical Research Communications, 1998
Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
Vorgerd M et al.
Neurogenetics, 1998
The identification of five novel mutations in the lysosomal acid a-(1-4) glucosidase gene from patients with glycogen storage disease type II. Mutations in brief no. 134. Online.
Beesley CE et al.
Human Mutation, 1998
Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: evidence for a founder effect.
Shieh JJ et al.
Human Mutation, 1998
A novel acid alpha-glucosidase mutation identified in a Pakistani family with glycogen storage disease type II.
Kroos MA et al.
Journal of Inherited Metabolic Disease, 1997
Two extremes of the clinical spectrum of glycogen storage disease type II in one family: a matter of genotype.
Kroos MA et al.
Human Mutation, 1997
Identification of an E689K substitution as the molecular basis of the human acid alpha-glucosidase type 4 allozyme (GAA*4).
Huie ML et al.
Annals of Human Genetics, 1996
A model of mRNA splicing in adult lysosomal storage disease (glycogenosis type II).
Raben N et al.
Human Molecular Genetics, 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.
Ausems MG et al.
Clinical Genetics, 1996
Prenatal diagnosis of glycogen storage disease type II: enzyme assay or mutation analysis?
Kleijer WJ et al.
Pediatric Research, 1995
Glycogenosis type II (acid maltase deficiency).
Reuser AJ et al.
Muscle & Nerve. Supplement, 1995
Genetic defects in patients with glycogenosis type II (acid maltase deficiency).
Raben N et al.
Muscle & Nerve. Supplement, 1995
A de novo 13 nt deletion, a newly identified C647W missense mutation and a deletion of exon 18 in infantile onset glycogen storage disease type II (GSDII).
Huie ML et al.
Human Molecular Genetics, 1994
Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).
Huie ML et al.
Human Mutation, 1994