The definition of neuronopathic Gaucher disease-Reference-Cited by-同舟云学术

The definition of neuronopathic Gaucher disease

Published:2020-04-03 Issue:5 Volume:43 Page:1056-1059
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Schiffmann Raphael¹^ORCID,Sevigny Jeff²,Rolfs Arndt³,Davies Elin Haf⁴,Goker‐Alpan Ozlem⁵,Abdelwahab Magy⁶,Vellodi Ashok⁷,Mengel Eugen⁸,Lukina Elena⁹,Yoo Han‐Wook¹⁰,Collin‐Histed Tanya¹¹,Narita Aya¹²,Dinur Tama¹³,Revel‐Vilk Shoshana¹³,Arkadir David¹⁴,Szer Jeff¹⁵,Wajnrajch Michael¹⁶,Ramaswami Uma¹⁷,Sidransky Ellen¹⁸,Donald Aimee¹⁹,Zimran Ari¹³¹⁴

Affiliation:

1. Baylor Scott & White Research Institute Dallas Texas

2. Prevail Therapeutics New York New York

3. Centogene AG Rostock Germany

4. Aparito, Ltd, Gwenfro Technology Park Wrexham UK

5. Lysosomal and Rare Disorders Research and Treatment Center (LDRTC) Fairfax Virginia

6. Department of Pediatric Hematology Cairo University Pediatric Hospital Cairo Egypt

7. Bushey Herts WD23 1DU Bushey UK

8. Clinical Science for LSD Hochheim Germany

9. National Research Center for Hematology Moscow Russia

10. Asan Medical Center, Department of Pediatrics Medical Genetics & Genomics Center Seoul South Korea

11. International Gaucher Alliance Dursley UK

12. Division of Child Neurology Institute of Neurological Science, Tottori University Faculty of Medicine Yonago Tottori Japan

13. Gaucher Unit Shaare Zedek Medical Center Jerusalem Israel

14. Hebrew University‐Hadassah Medical School Jerusalem Israel

15. Clinical Haematology Peter MacCallum Cancer Centre and The Royal Melbourne Hospital Melbourne Australia

16. Pfizer Inc., Clinical Professor of Pediatrics, New York University Langone School of Medicine New York New York

17. Lysosomal Storage Disorder Unit Royal Free Hospital London UK

18. Medical Genetics Branch, National Human Genome Research Institute National Institutes of Health Bethesda Maryland

19. University of Manchester St Marys Hospital Manchester UK

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12235

Reference14 articles.

1. Phenotypic continuum in neuronopathic gaucher disease: an intermediate phenotype between type 2 and type 3

2. Long-term follow-up and sudden unexpected death in Gaucher disease type 3 in Egypt

3. Gaucher disease among Chinese patients: Review on genotype/phenotype correlation from 29 patients and identification of novel and rare alleles

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