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• W4308686111 abstract "Patients with early-onset lysosomal storage diseases are ideal candidates for prenatal therapy because organ damage starts in utero. We report the safety and efficacy results of in utero enzyme-replacement therapy (ERT) in a fetus with CRIM (cross-reactive immunologic material)-negative infantile-onset Pompe's disease. The family history was positive for infantile-onset Pompe's disease with cardiomyopathy in two previously affected deceased siblings. After receiving in utero ERT and standard postnatal therapy, the current patient had normal cardiac and age-appropriate motor function postnatally, was meeting developmental milestones, had normal biomarker levels, and was feeding and growing well at 13 months of age." @default.
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• W4308686111 date "2022-12-08" @default.
• W4308686111 modified "2023-10-10" @default.
• W4308686111 title "In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe’s Disease" @default.
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• W4308686111 doi "https://doi.org/10.1056/nejmoa2200587" @default.
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