Associated Papers
Early Initiation of Enzyme Replacement Therapy in Infantile Onset Pompe Disease Improves Cardiac Outcomes: A Longitudinal Analysis.
Cohen JL et al.
Jimd Reports, 2026
Uncovering the Molecular Signatures of Rare Genetic Diseases in the Punjabi Population.
Tabassum I et al.
International Journal of Molecular Sciences, 2025
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
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
Real-world outcomes from a series of patients with late onset Pompe disease who switched from alglucosidase alfa to avalglucosidase alfa.
Carter C et al.
Frontiers in Genetics, 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
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.
Brassier A et al.
Molecular Genetics and Metabolism, 2023
A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.
Yang RL et al.
World Journal of Pediatrics : Wjp, 2023
A Multi-Centre Prospective Study of the Efficacy and Safety of Alglucosidase Alfa in Chinese Patients With Infantile-Onset Pompe Disease.
Zhu D et al.
Frontiers in Pharmacology, 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
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
Correlation of GAA Genotype and Acid-α-Glucosidase Enzyme Activity in Hungarian Patients with Pompe Disease.
Gal A et al.
Life (basel, Switzerland), 2021
Immune Tolerance-Adjusted Personalized Immunogenicity Prediction for Pompe Disease.
De Groot AS et al.
Frontiers in Immunology, 2021
Moss-Derived Human Recombinant GAA Provides an Optimized Enzyme Uptake in Differentiated Human Muscle Cells of Pompe Disease.
Hintze S et al.
International Journal of Molecular Sciences, 2020
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.
Burton BK et al.
International Journal of Neonatal Screening, 2020
Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.
Gupta N et al.
The Journal of Pediatrics, 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
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
Ngiwsara L et al.
Bmc Medical Genetics, 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
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.
Kazi ZB et al.
Genetics in Medicine : Official Journal of the American College of Medical 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
Infantile-onset Pompe disease: A case series highlighting early clinical features, spectrum of disease severity and treatment response.
Owens P et al.
Journal of Paediatrics and Child Health, 2018
Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.
Parini R et al.
Orphanet Journal of Rare Diseases, 2018
Incidence of infantile Pompe disease in the Maroon population of French Guiana.
Elenga N et al.
Bmj Paediatrics Open, 2018
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mori M et al.
Molecular Genetics and Metabolism, 2017
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
Response of 33 UK patients with infantile-onset Pompe disease to enzyme replacement therapy.
Broomfield A et al.
Journal of Inherited Metabolic Disease, 2016
[Clinical characteristics and gene mutation analysis of one pedigree with infantile glycogen storage disease type II].
Zhang L et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 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
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
Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited.
Schoser BG et al.
Neuropathology and Applied Neurobiology, 2007
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.
Müller-Felber W et al.
Neuromuscular Disorders : Nmd, 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
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
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