Litcius/Paper detail

Severe CNS involvement in a subset of long-term treated children with infantile-onset Pompe disease

Daniel Kenney‐Jung, Aditi Korlimarla, Gail A. Spiridigliozzi, Walter F. Wiggins, Michael D. Malinzak, Gretchen Nichting, Seung‐Hye Jung, Angela Sun, Raymond Wang, Aisha Al Shamsi, Chanika Phornphutkul, James W. M. Owens, James M. Provenzale, Priya S. Kishnani

2023Molecular Genetics and Metabolism22 citationsDOIOpen Access PDF

Topics & Concepts

HyperintensityMedicineEncephalopathyPediatricsEnzyme replacement therapyMagnetic resonance imagingHyperreflexiaDiseaseInternal medicineSurgeryRadiologyLysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusTrypanosoma species research and implications