Management of bone disease in cystinosis: Statement from an international conference-Reference-Cited by-同舟云学术

Management of bone disease in cystinosis: Statement from an international conference

Published:2019-08-05 Issue:5 Volume:42 Page:1019-1029
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Hohenfellner Katharina¹^ORCID,Rauch Frank²,Ariceta Gema³,Awan Atif⁴,Bacchetta Justine⁵,Bergmann Carsten⁶,Bechtold Susanne⁷,Cassidy Noelle⁸,Deschenes Geroges⁹,Elenberg Ewa¹⁰,Gahl William A.¹¹,Greil Oliver¹²,Harms Erik¹³,Herzig Nadine¹⁴,Hoppe Bernd¹⁵,Koeppl Christian¹⁶,Lewis Malcolm A.⁴,Levtchenko Elena¹⁷,Nesterova Galina¹⁸,Santos Fernando¹⁹,Schlingmann Karl P.²⁰,Servais Aude²¹,Soliman Neveen A.²²,Steidle Guenther¹⁶,Sweeney Clodagh⁴,Treikauskas Ulrike²³,Topaloglu Rezan²⁴,Tsygin Alexey²⁵,Veys Koenraad¹⁷,Vigier Rodo²⁶,Zustin Jozef²⁷,Haffner Dieter²⁸

Affiliation:

1. Ro Med Kliniken, Pediatric Nephrology Rosenheim Germany

2. Shriners Hospital for Children, McGill University Montreal Canada

3. Service of Pediatric NephrologyUniversity Hospital Vall d’ Hebron Barcelona Spain

4. Department of NephrologyChildren's University Hospital Dublin Ireland

5. Référence Center for Rare Renal DiseasesHôpital Femme‐Mère‐Enfant Bron France

6. Department of MedicineUniversity Hospital Freiburg Freiburg Germany

7. Division of Pediatric EndocrinologyChildren's Hospital and Polyclinic iSPZ, Dr. v. Haunerschen Kinderspital, University Hospital Munich Munich Germany

8. Department of Orthopaedic SurgeryChildren's University Hospital Dublin Ireland

9. Department of Pediatric NephrologyHôpital Robert‐Debré and University of Paris Diderot Paris France

10. Department of PediatricsBaylor College of Medicine and Texas Children's Hospital Houston Texas

11. National Human Genome Research InstituteNational Institutes of Health Undiagnosed Diseases Program Bethesda Maryland

12. Department of Diagnostic and Interventional RadiologyKlinikum Traunstein Traunstein Germany

13. Children‘s University Hospital Muenster Muenster Germany

14. Schoen Clinic Munich HarlachingSpecialist Centre for Paediatric and Neuro‐Orthopaedics Munich Germany

15. Division of Pediatric NephrologyUniversity Children's Hospital Bonn Germany

16. Kliniken Südostbayern AG, Sozialpädiatrisches Zentrum Traunstein Germany

17. Department of Pediatrics & Development and RegenerationUniversity Hospitals Leuven & Katholieke Universiteit Leuven Leuven Belgium

18. National Institutes of Health, National Human Genome Research Institute (NHGRI) Bethesda Maryland

19. Hospital Universitario Central de AsturiasPediatría Oviedo Spain

20. Department of General PediatricsUniversity Children's Hospital Münster Münster Germany

21. Reference Center of Inherited Metabolic Diseases, Nephrology Unit, Hospital Necker Enfants Malades, APHPUniversity Paris Descartes Paris France

22. Department of Pediatrics, Center of Pediatric Nephrology and Transplantation (CPNT), Kasr Al Ainy Faculty of MedicineCairo University Cairo Egypt

23. Department of Pediatrics, Department of Pediatric NephrologyRo‐Med Kliniken Rosenheim Germany

24. Department of Pediatric NephrologyHacettepe University Faculty of Medicine Ankara Turkey

25. Department of NephrologyNational Medical and Research Center for Children's Health Moscow Russia

26. Pediatric ClinicWildermeth Children's Hospital Biel‐Bienne Switzerland

27. Institute of Osteology and BiomechanicsUniversity Medical Center Hamburg‐Eppendorf, University of Hamburg Hamburg Germany

28. Department of Pediatric Kidney, Liver and Metabolic DiseasesHannover Medical School Hannover Germany

Funder

Cystinosis Foundation

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12134

Reference65 articles.

1. Cystine Transport Is Defective in Isolated Leukocyte Lysosomes from Patients with Cystinosis

2. A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

3. The renal Fanconi syndrome in cystinosis: pathogenic insights and therapeutic perspectives

4. Cystinosis: a review

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