PracticeUpdate Conference Series_WORLDSymposium 2019

CONTENTS WORLDSymposium 2019 • 4–8 February 2019 • Orlando, Florida, USA BY THE PRACTICEUPDATE EDITORIAL TEAM

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3 Early-Onset Pompe Disease Linked to c.-32-13TNG Variant 4 Biochemical Change Corresponds With Clinical Manifestation of Neurologic Response in Patients With MPS I-H 5 Algorithm That Incorporates Facial Features Helps Identify Mucopolysaccharidoses 6 Neuroimaging Demonstrates Complications in Newborns With MPS I 7 Enzyme Therapy Reduces Paraprotein Levels in Type 1 Gaucher Disease

8 Long-Term Migalastat Therapy Benefits Renal Function and Cardiac Mass in Patients With Fabry Disease 10 Tripeptidyl Peptidase 1 Assay for Dried Blood Specimens Helps Diagnose CLN2 Disease Inexpensively 11 RNA Reprogramming Procedure Generates Induced Pluripotent Stem Cells of Patients With Fabry Disease 12 Elosulfase α Improves Outcomes Long Term in Patients With MPS IVA 14 Transition From Pediatric to Adult Care in Patients With MPS Needs to Be Flexible and Comprehensive

16 Velaglucerase α Maintains Improvement Long Term in Patients With Gaucher Disease 17 Patients With MPS II Without Cognitive Impairment Still Markedly Affected by Somatic Symptoms 18 Gene Therapy Using SB-913 Shown to Be Safe and Well Tolerated in MPS II 20 Gammopathies More Common in Patients >50 Years With Gaucher Disease

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WORLDSymposium 2019 • PRACTICEUPDATE CONFERENCE SERIES 1