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
Five-Year Outcomes of Patients with Pompe Disease Identified by the Pennsylvania Newborn Screen.
Ron HA et al.
International Journal of Neonatal Screening, 2025
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
A case report of Arnold Chiari type 1 malformation in acromesomelic dwarf infant.
Maurya MR et al.
The Pan African Medical Journal, 2021
Newborn Screening for Pompe Disease: Pennsylvania Experience.
Ficicioglu C 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
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
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
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Abou Tayoun AN et al.
Human Mutation, 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
CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
Berrier KL et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Variant Classification for Pompe disease; ACMG/AMP specifications from the ClinGen Lysosomal Diseases Variant Curation Expert Panel.
Goldstein JL et al.
Molecular Genetics and Metabolism, 0