Associated Papers
Correction of Disease Phenotype in Pompe Disease Knockout Mice Following Cationic Lipid-GL-67-Mediated Gene Therapy.
Martiniuk F et al.
Dna and Cell Biology Reports, 2025
Efficacy and safety of avalglucosidase alfa in Japanese patients with late-onset and infantile-onset Pompe diseases: A case series from clinical trials.
Mori-Yoshimura M et al.
Molecular Genetics and Metabolism Reports, 2025
Sensory neuropathy in patients with Pompe disease: a case series in Iran.
Babaee M et al.
Bmc Musculoskeletal Disorders, 2024
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
Biochemical and Genetic Testing of GAA in Over 30.000 Symptomatic Patients Suspected to Be Affected With Pompe Disease.
Balendran-Braun S et al.
Human Mutation, 2024
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Zhang T et al.
Molecular Genetics and Metabolism, 2022
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 2022
Variable Genotype-Phenotype Correlation of Pompe's Disease Caused by a c.2015 G > A (p.Arg672Gln) Mutation in the GAA Gene.
Tokatly Latzer I et al.
Neuropediatrics, 2021
Broad variation in phenotypes for common GAA genotypes in Pompe disease.
Niño MY et al.
Human Mutation, 2021
Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population.
Park KS
Children (basel, Switzerland), 2021
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
GAA gene mutation detection following clinical evaluation and enzyme activity analysis in Azeri Turkish patients with Pompe disease.
Gharesouran J et al.
Metabolic Brain Disease, 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
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
Implementation of a Targeted Next-Generation Sequencing Panel for Constitutional Newborn Screening in High-Risk Neonates.
Lee H et al.
Yonsei Medical Journal, 2019
Newborn screening for Pompe disease in Japan: report and literature review of mutations in the GAA gene in Japanese and Asian patients.
Momosaki K et al.
Journal of Human Genetics, 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
Incidence of infantile Pompe disease in the Maroon population of French Guiana.
Elenga N et al.
Bmj Paediatrics Open, 2018
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
Atypical Infantile-onset Pompe Disease with Hypertrophic Cardiomyopathy.
Quan JJ et al.
Chinese Medical Journal, 2017
Effect of enzyme replacement therapy in late onset Pompe disease: open pilot study of 48 weeks follow-up.
Park JS et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015
Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.
Bali DS et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2012
Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones.
Tajima Y et al.
Journal of Human Genetics, 2011
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
p.[G576S; E689K]: pathogenic combination or polymorphism in Pompe disease?
Kroos MA et al.
European Journal of Human Genetics : Ejhg, 2008
The molecular basis of familial dysautonomia: overview, new discoveries and implications for directed therapies.
Rubin BY et al.
Neuromolecular Medicine, 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
Molecular genetics of late onset glycogen storage disease II in Italy.
Pittis MG et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007
Two new missense mutations of GAA in late onset glycogen storage disease type II.
Park YE et al.
Journal of the Neurological Sciences, 2006
Twenty-two novel mutations in the lysosomal alpha-glucosidase gene (GAA) underscore the genotype-phenotype correlation in glycogen storage disease type II.
Hermans MM et al.
Human Mutation, 2004
New GAA mutations in Japanese patients with GSDII (Pompe disease).
Pipo JR et al.
Pediatric Neurology, 2003
Identification of four novel mutations in the alpha glucosidase gene in five Italian patients with infantile onset glycogen storage disease type II.
Pittis MG et al.
American Journal of Medical Genetics. Part A, 2003
Homozygosity for multiple contiguous single-nucleotide polymorphisms as an indicator of large heterozygous deletions: identification of a novel heterozygous 8-kb intragenic deletion (IVS7-19 to IVS15-17) in a patient with glycogen storage disease type II.
Huie ML et al.
American Journal of Human Genetics, 2002
Intercellular transfer of the virally derived precursor form of acid alpha-glucosidase corrects the enzyme deficiency in inherited cardioskeletal myopathy Pompe disease.
Pauly DF et al.
Human Gene Therapy, 2001
Frequent mutations in Japanese patients with acid maltase deficiency.
Tsujino S et al.
Neuromuscular Disorders : Nmd, 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
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
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
Broad Spectrum of c.2015 G>A Mutation in the GAA Gene Manifesting as a Mild Infantile Variant of Pompe Disease in Jordanian Patients.
Fattal-Valevski A et al.
Journal of Neuromuscular Diseases, 0