PracticeUpdate Conference Series - SSIEM 2018

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PracticeUpdate is guided by a world-renowned Editorial and Advisory Board that represents community practitioners and academic specialists with cross-disciplinary expertise. Editor-in-Chief David Rakel MD, FAAFP Associate Editors Tricia Elliott MD, FAAFP, Peter Lin MD, CCFP Advisory Board Robert Bonakdar MD, FAAFP, FACN , Dennis Butler PhD , Frederick Chen MD, MPH , Irene Hamrick MD, FAAFP, AGSF, Dipesh Navsaria MPH, MSLIS, MD , Jonathan Temte MD, PhD Editorial Contributors Michael Allen MD , Andrea Dotson MD

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For a complete listing of disclosures for each board member and editorial contributor, please refer to their profile on PracticeUpdate.com PracticeUpdate ’s mission is to help medical professionals navigate the vast array of available literature and focus on the most critical information for their patients and practice. PracticeUpdate Conference Series is a collection of key research from leading international conferences, reviewed by the PracticeUpdate editorial and advisory board, made available in print format. These news highlights and more are also available online at PracticeUpdate.com PracticeUpdate and the PracticeUpdate Conference Series are commercially supported by advertising, sponsorship, and educational grants. Individual access to PracticeUpdate.com is free. Premium content is available to any user who registers with the site. While PracticeUpdate is a commercially-sponsored product, it maintains the highest level of academic rigour, objectivity, and fair balance associated with all Elsevier products. No editorial content is influenced in any way by commercial sponsors or content contributors. DISCLAIMER The PracticeUpdate Conference Series provides highlights of key international conferences for specialist medical professionals. The ideas and opinions expressed in this publication do not necessarily reflect those of the Publisher. Elsevier will not assume responsibility for damages, loss, or claims of any kind arising from or related to the informationcontained in thispublication, includinganyclaimsrelated to the products, drugs, or services mentioned herein. Because of rapid advances in the medical sciences, in particular, independent verification of diagnoses and drug dosages should be made. Please consult the full current Product Information before prescribing any medication mentioned in this publication. Although all advertising material is expected to conform to ethical (medical) standards, inclusion in this publication does not constitute a guarantee or endorsement of the quality or value of such product or of the claims made of it by its manufacturer. The production and distribution of this publication is sponsored by Sanofi Genzyme. It contains content published in accordance with the editorial policies of Elsevier’s PracticeUpdate.com. Content was produced by Elsevier with no involvement by Sanofi Genzyme. All content printed in this publication can be found on PracticeUpdate.com SALES Fleur Gill fleur.gill@elsevier.com Matthew Buttsworth m.buttsworth@elsevier.com Linnea Mitchell-Taverner l.mitchell@elsevier.com PRODUCTION Content was originally published on PracticeUpdate.com Production of this issue was executed by: Editorial Manager A nne Neilson anne.neilson@elsevier.com Editorial Project Manager Carolyn Ng Designer Jana Sokolovskaja ISSN 2208-150X (Print) • ISSN 2208-1518 (Online)

Contents

SSIEM 2018 • 4–7 September 2018 • Athens, Greece BY THE PRACTICEUPDATE EDITORIAL TEAM

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2 Cholesterol Ratios May Help Detect 4 Though NGS Can Detect Genomic Deletions in Metabolic Disorders, Precise Characterization Is Lacking 6 Follow-Up of Newborns With Suspected Lysosomal Storage Diseases Can Be Reduced Significantly With Simultaneous MS/MS and Confirmatory Tests 8 Diagnosis of Mucopolysaccharidosis May Be Simplified Worldwide 9 Critical Care of Adults With MPS Involves Diverse Considerations 10 Targeted NGS Gene Panel Improves Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism Risk of Insulin Resistance and Metabolic Syndrome in Patients With GSDI

12 New Phenotype of Muscle Weakness in Classic Infantile Pompe Disease Has Emerged 14 Epicatechin Improves Several Measures of Friedreich’s Ataxia 15 Whole Exome Sequencing Is a Potent First-Line Diagnostic Tool for Neurometabolic Disorders 16 Genetic Analysis Essential for Diagnosis of Glucose Transporter-1 Deficiency Syndrome 18 NMR Analysis Helps Diagnose a Variety of Inborn Errors of Metabolism 19 New Cell Reporter Line Enables Drug Screening of NDST1 in Patients With Sanfilippo Lysosomal Storage Disorders 20 Sapropterin + Diet in Children With Phenylketonuria Raises and Maintains Phenylalanine Tolerance

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SSIEM 2018 • PRACTICEUPDATE CONFERENCE SERIES