Associated Papers
Functional Variation in Human CAZyme Genes in Relation to the Efficacy of a Carbohydrate-Restricted Diet in IBS Patients.
Zamfir-Taranu A et al.
Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2025
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
Ron HA et al.
International Journal of Neonatal Screening, 2025
Clinical manifestations in Egyptian Pompe disease patients: Molecular variability and enzyme replacement therapy (ERT) outcomes.
Hussein MA et al.
Italian Journal of Pediatrics, 2025
Sensory neuropathy in patients with Pompe disease: a case series in Iran.
Babaee M et al.
Bmc Musculoskeletal Disorders, 2024
Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.
Nunes Campos L et al.
Cureus, 2024
A Comprehensive Update on Late-Onset Pompe Disease.
Labella B et al.
Biomolecules, 2023
Motor outcomes in patients with infantile and juvenile Pompe disease: Lessons from neurophysiological findings.
Brassier A et al.
Molecular Genetics and Metabolism, 2023
Newborn screening for Pompe disease in Italy: Long-term results and future challenges.
Gragnaniello V et al.
Molecular Genetics and Metabolism Reports, 2022
Infantile-onset Pompe disease in seven Mexican children.
Sánchez-Sánchez LM et al.
Gaceta Medica De Mexico, 2022
Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via newborn screening: the benefits of early treatment with enzyme replacement therapy and immune tolerance induction.
Li C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants.
Limgala RP et al.
Jimd Reports, 2021
Newborn Screening for Pompe Disease.
Sawada T et al.
International Journal of Neonatal Screening, 2020
Lessons Learned from Pompe Disease Newborn Screening and Follow-up.
Klug TL et al.
International Journal of Neonatal Screening, 2020
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.
Wasserstein MP et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Incidence of infantile Pompe disease in the Maroon population of French Guiana.
Elenga N et al.
Bmj Paediatrics Open, 2018
Premature pubarche in children with Pompe disease.
Tan QK et al.
The Journal of Pediatrics, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.
Niño MY et al.
Jimd Reports, 2013
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
Glycogenosis type II (acid maltase deficiency).
Reuser AJ et al.
Muscle & Nerve. Supplement, 1995
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
Respiratory manifestations in late-onset Pompe disease: a case series conducted in Brazil.
Sixel BS et al.
Jornal Brasileiro De Pneumologia : Publicacao Oficial Da Sociedade Brasileira De Pneumologia E Tisilogia, 0