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Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening

Erin Huggins, Maggie Holland, Laura E. Case, Janet Blount, Andrew P. Landstrom, Harrison N. Jones, Priya S. Kishnani

2022Molecular Genetics and Metabolism33 citationsDOI

Topics & Concepts

MedicineBiomarkerDiseaseNewborn screeningPediatricsInternal medicineCardiomyopathyEnzyme replacement therapySwallowingPhysical therapySurgeryHeart failureChemistryBiochemistryLysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusCarbohydrate Chemistry and Synthesis
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening | Litcius