Associated Papers
Neutral sp2-iminosugars exploiting non-glycone interactions for selective acid α- and β-glucosidase activity modulation: Pharmacological chaperones for Gaucher and Pompe diseases.
García-Moreno MI et al.
European Journal of Medicinal Chemistry, 2026
Resource: A compendium of HLA types and expression in pediatric cancer models.
Guan Y et al.
Iscience, 2025
Adult Pompe disease: Analysis of 13 patients.
Martín-Jiménez P et al.
Medicina Clinica, 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
Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.
Nunes Campos L et al.
Cureus, 2024
Enzyme replacement therapy and immunotherapy lead to significant functional improvement in two children with Pompe disease: a case report.
Castellar-Leones SM et al.
Journal of Medical Case Reports, 2024
Mutational spectrum and genotype-phenotype correlation in Mexican patients with infantile-onset and late-onset Pompe disease.
Martinez-Montoya V et al.
Molecular Genetics & Genomic Medicine, 2024
[Late onset Pompe disease: an analysis of 19 patients from Mexico].
Sánchez-Sánchez LM et al.
Revista De Neurologia, 2022
Broad variation in phenotypes for common GAA genotypes in Pompe disease.
Niño MY et al.
Human Mutation, 2021
Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease.
Bar-Yoseph R et al.
Journal of Personalized Medicine, 2021
Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.
Park KS
Molecular Genetics and Metabolism Reports, 2021
Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding.
Sidorina A et al.
Journal of Inherited Metabolic Disease, 2021
Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children.
Galeotti A et al.
Orphanet Journal of Rare Diseases, 2020
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.
Desai AK et al.
Molecular Genetics and Metabolism Reports, 2019
Enzyme replacement therapy with alglucosidase alfa in a late-onset Pompe disease patient during pregnancy.
Oliveira Santos M et al.
Neuromuscular Disorders : Nmd, 2018
The phenotype, genotype, and outcome of infantile-onset Pompe disease in 18 Saudi patients.
Al-Hassnan ZN et al.
Molecular Genetics and Metabolism Reports, 2018
Cardiopulmonary exercise test to quantify enzyme replacement response in pediatric Pompe disease.
Bar-Yoseph R et al.
Pediatric Pulmonology, 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
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
[Variability in the clinical presentation of Pompe disease: development following enzyme replacement therapy].
Ley-Martos M et al.
Revista De Neurologia, 2015
Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.
Liu X et al.
Bmc Medical Genetics, 2014
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.
Prater SN et al.
Orphanet Journal of Rare Diseases, 2013
Alkaptonuria and Pompe disease in one patient: metabolic and molecular analysis.
Zouheir Habbal M et al.
Bmj Case Reports, 2013
Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.
Niño MY et al.
Jimd Reports, 2013
Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.
Palermo AT et al.
Molecular Genetics and Metabolism, 2012
Whole-body muscle MRI in 20 patients suffering from late onset Pompe disease: Involvement patterns.
Carlier RY et al.
Neuromuscular Disorders : Nmd, 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
Therapeutic approaches in glycogen storage disease type II/Pompe Disease.
Schoser B et al.
Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2008
Molecular and functional characterization of eight novel GAA mutations in Italian infants with Pompe disease.
Pittis MG et al.
Human Mutation, 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
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
Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease.
Parenti G et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2007
A novel missense mutation in the acid alpha-glucosidase gene causing the classic infantile form of Pompe disease.
Dou W et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2006
Mutation profile of the GAA gene in 40 Italian patients with late onset glycogen storage disease type II.
Montalvo AL et al.
Human Mutation, 2006
Glycogenosis type II: identification and expression of three novel mutations in the acid alpha-glucosidase gene causing the infantile form of the disease.
Montalvo AL et al.
Molecular Genetics and Metabolism, 2004
[Juvenile Pompe disease: retrospective clinical study].
Loureiro Neves F et al.
Acta Medica Portuguesa, 0