Developments in evidence creation for treatments of inborn errors of metabolism-Reference-Cited by-同舟云学术

Developments in evidence creation for treatments of inborn errors of metabolism

Published:2020-10-04 Issue:1 Volume:44 Page:88-98
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Stockler‐Ipsiroglu Sylvia¹^ORCID,Potter Beth K.²,Yuskiv Nataliya¹,Tingley Kylie²,Patterson Marc³,Karnebeek Clara⁴⁵⁶

Affiliation:

1. Division of Biochemical Genetics, Department of Pediatrics, and BC Children's Hospital Research Institute University of British Columbia Vancouver British Columbia Canada

2. School of Epidemiology and Public Health University of Ottawa Ottawa Ontario Canada

3. Division of Child and Adolescent Neurology, Departments of Neurology Pediatrics and Medical Genetics Mayo Clinic Children's Center Rochester Minnesota USA

4. Departments of Pediatrics and Clinical Genetics Amsterdam University Medical Centres Amsterdam The Netherlands

5. Department of Pediatrics Radboud University Medical Centre Nijmegen The Netherlands

6. Department of Pediatrics BC Children's Hospital Research Institute, Centre for Molecular Medicine and Therapeutics Vancouver British Columbia Canada

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12315

Reference108 articles.

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2. Preliminary Communication

3. Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review

4. Drug discovery and development for rare genetic disorders

5. Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research?

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