Associated Papers
Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.
Iengar P et al.
Computational Biology and Chemistry, 2026
The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase Alfa.
Kronn D et al.
The Journal of Pediatrics, 2025
Prevalence of lysosomal storage disease (LSD) in Malaysia.
Omar A et al.
The Malaysian Journal of Pathology, 2025
Decoding the muscle transcriptome of patients with late-onset Pompe disease reveals markers of disease progression.
Monceau A et al.
Brain : a Journal of Neurology, 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
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants.
Chan MY et al.
Orphanet Journal of Rare Diseases, 2023
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.
Brassier A et al.
Molecular Genetics and Metabolism, 2023
Polymorphism in exercise genes and respiratory function in late-onset Pompe disease.
Ravaglia S et al.
Journal of Applied Physiology (bethesda, Md. : 1985), 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
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
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
Central nervous system involvement in late-onset Pompe disease: clues from neuroimaging and neuropsychological analysis.
Musumeci O et al.
European Journal of Neurology, 2019
Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.
Roig-Zamboni V et al.
Nature Communications, 2017
Intracranial arterial abnormalities in patients with late onset Pompe disease (LOPD).
Montagnese F et al.
Journal of Inherited Metabolic Disease, 2016
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.
Musumeci O et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2016
Role of the cardio-pulmonary exercise test and six-minute walking test in the evaluation of exercise performance in patients with late-onset Pompe disease.
Crescimanno G et al.
Neuromuscular Disorders : Nmd, 2015
Clinical and molecular aspects of 30 patients with late-onset Pompe disease (LOPD): unusual features and response to treatment.
Montagnese F et al.
Journal of Neurology, 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
A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.
Herzog A et al.
Orphanet Journal of Rare Diseases, 2012
Expanding the clinical spectrum of late-onset Pompe disease: dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered.
El-Gharbawy AH et al.
Molecular Genetics and Metabolism, 2011
Diagnostic efficacy of the fluorometric determination of enzyme activity for Pompe disease from dried blood specimens compared with lymphocytes-possibility for newborn screening.
Lukacs Z et al.
Journal of Inherited Metabolic Disease, 2010
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
Intracerebral hemorrhage in a patient with glycogenosis type II (Pompe disease): is there a pathophysiological relationship?
Brettschneider J et al.
Muscle & Nerve, 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
Adult-onset glycogen storage disease type II: phenotypic and allelic heterogeneity in German patients.
Vorgerd M et al.
Neurogenetics, 1998
Glycogenosis type II (acid maltase deficiency).
Reuser AJ et al.
Muscle & Nerve. Supplement, 1995
Mutation at the catalytic site (M519V) in glycogen storage disease type II (Pompe disease).
Huie ML et al.
Human Mutation, 1994