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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

Cindy Li, Ankit K. Desai, Punita Gupta, Katherine Dempsey, Vikas Bhambhani, Robert J. Hopkin, Can Fıçıcıoğlu, Pranoot Tanpaiboon, William J. Craigen, Amy S. Rosenberg, Priya S. Kishnani

2021Genetics in Medicine57 citationsDOIOpen Access PDF

Topics & Concepts

Enzyme replacement therapyMedicineRituximabInternal medicineNewborn screeningCreatine kinaseCohortDiseasePregnancyPediatricsAntibodyGastroenterologyImmunologyGeneticsBiologyLysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusWhipple's Disease and Interleukins
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 | Litcius