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
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
Screening data from 19 patients with late-onset Pompe disease for a phase I clinical trial of AAV8 vector-mediated gene therapy.
Hannah WB et al.
Jimd Reports, 2023
Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.
Trinidad M et al.
Genome Biology, 2023
Infantile-onset Pompe disease in seven Mexican children.
Sánchez-Sánchez LM et al.
Gaceta Medica De Mexico, 2022
Current status of newborn screening for Pompe disease in Japan.
Sawada T et al.
Orphanet Journal of Rare Diseases, 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
Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.
Niño MY et al.
European Journal of Human Genetics : Ejhg, 2021
Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations.
Alila-Fersi O et al.
Journal of Molecular Neuroscience : Mn, 2020
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
Khan AA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Pulmonary outcome measures in long-term survivors of infantile Pompe disease on enzyme replacement therapy: A case series.
ElMallah MK et al.
Pediatric Pulmonology, 2020
Lessons Learned from Pompe Disease Newborn Screening and Follow-up.
Klug TL 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
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
Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.
Desai AK et al.
Molecular Genetics and Metabolism, 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
Premature pubarche in children with Pompe disease.
Tan QK et al.
The Journal of Pediatrics, 2015
Remarkably low fibroblast acid α-glucosidase activity in three adults with Pompe disease.
Wens SC et al.
Molecular Genetics and Metabolism, 2012
Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).
Ebrahim HY et al.
Journal of Inherited Metabolic Disease, 2012
Homozygotic intronic GAA mutation in three siblings with late-onset Pompe's disease.
Grzesiuk AK et al.
Arquivos De Neuro-psiquiatria, 2010
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
Structural modeling of mutant alpha-glucosidases resulting in a processing/transport defect in Pompe disease.
Sugawara K et al.
Journal of Human Genetics, 2009
Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating.
Kroos M et al.
Human Mutation, 2008
Ocular and histologic findings in a series of children with infantile pompe disease treated with enzyme replacement therapy.
Prakalapakorn SG et al.
Journal of Pediatric Ophthalmology and Strabismus, 0