Sanofi Genzyme Sponsored Satellite Symposium – WORLDSymposium™ 2021 Program Evaluation Survey “Pompe Disease Around the World”, February 9th 2021.

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* 2. Session 1: Analysis of GAA gene variants in the global Pompe Registry and Perspectives on the U.S. experience with Pompe disease newborn screening

Mary-Alice Abbott, MD, PhD
Division of Medical Genetics, Univ. of Massachusetts – Baystate Medical Center, Springfield, MA, USA

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* 3. Session 2: Pompe disease genetics, clinical presentations, and newborn screening in Taiwan

Yin-Hsiu (Nancy) Chien, MD, PhD
Dept. of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan

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* 4. Session 3: Update of the Pompe variant database for the prediction of clinical phenotypes: a genetic modifier for the IVS1 variant, novel disease-associated variants, common sequence variants, and results from newborn screening

Pim Pijnappel, PhD
Center for Lysosomal and Metabolic Diseases, Erasmus University Medical Center, Rotterdam, The Netherlands

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This Satellite Symposium is not part of the official WORLDSymposium program, and WORLDSymposium does not approve or endorse any commercial products or services discussed during the Satellite Symposium or offered for sale by the corporate supporter of the Satellite Symposium. This Satellite Symposium is not approved for CME by WORLDSymposium or any other entity.

Eligibility: Registration for WORLDSymposium 2021 is required to attend this satellite symposium.

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MAT-US-2100144 v2.0
Exp Date: 2/10/2021

Sanofi Genzyme Sponsored Satellite Symposium – WORLDSymposium™ 2021 Program Evaluation Survey “Pompe Disease Around the World”, February 9th 2021.

Question Title

* 1. Please indicate your medical specialty

Question Title

* 2. Session 1: Analysis of GAA gene variants in the global Pompe Registry and Perspectives on the U.S. experience with Pompe disease newborn screeningMary-Alice Abbott, MD, PhD Division of Medical Genetics, Univ. of Massachusetts – Baystate Medical Center, Springfield, MA, USA

Question Title

* 3. Session 2: Pompe disease genetics, clinical presentations, and newborn screening in TaiwanYin-Hsiu (Nancy) Chien, MD, PhD Dept. of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan

Question Title

Question Title

* 5. This scientific symposium was a good learning experience

Question Title

* 6. This scientific symposium provided helpful information for my clinical practice

Question Title

* 7. Please provide any other comments of this presentation / suggestions you might have for future presentation topics

Question Title

* 8. Please write clearly if you would like a follow up discussion (optional)

* 2. Session 1: Analysis of GAA gene variants in the global Pompe Registry and Perspectives on the U.S. experience with Pompe disease newborn screening

Mary-Alice Abbott, MD, PhD
Division of Medical Genetics, Univ. of Massachusetts – Baystate Medical Center, Springfield, MA, USA

* 3. Session 2: Pompe disease genetics, clinical presentations, and newborn screening in Taiwan

Yin-Hsiu (Nancy) Chien, MD, PhD
Dept. of Medical Genetics and Pediatrics, National Taiwan University Hospital, Taipei, Taiwan