Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era-Reference-Cited by-同舟云学术

Translational Metabolism: A multidisciplinary approach towards precision diagnosis of inborn errors of metabolism in the omics era

Published:2019-02-05 Issue:2 Volume:42 Page:197-208
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Wanders Ronald J. A.¹²,Vaz Frederic M.¹²,Ferdinandusse Sacha¹²,van Kuilenburg André B. P.¹²,Kemp Stephan¹²,van Karnebeek Clara D.¹²,Waterham Hans R.¹²,Houtkooper Riekelt H.¹²

Affiliation:

1. Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children's HospitalAmsterdam University Medical Centers, University of Amsterdam Amsterdam The Netherlands

2. Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Emma Children's HospitalAmsterdam University Medical Centers, University of Amsterdam Amsterdam The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12008

Reference93 articles.

1. Think big — think omics

2. A Next Generation Multiscale View of Inborn Errors of Metabolism

3. Modifier Genes Convert “Simple” Mendelian Disorders to Complex Traits

4. Phenotypes of Patients with “Simple” Mendelian Disorders Are Complex Traits: Thresholds, Modifiers, and Systems Dynamics

5. Clinical and Biochemical Pitfalls in the Diagnosis of Peroxisomal Disorders

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