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
41586034 (PubMed )
Supplement: JMD2-67-e70060-s001.xlsx › JIMD_03.04.2025_Supp_Table_1
In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease.
Cohen JL et al.
The New England Journal of Medicine, 2022
RT-PCR analysis of mRNA revealed the splice-altering effect of rare intronic variants in monogenic disorders.
Zhang X et al.
Annals of Human Genetics, 2020
GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.
Reuser AJJ et al.
Human Mutation, 2019
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