Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC‐MS/MS analysis platform-Reference-Cited by-同舟云学术

Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC‐MS/MS analysis platform

Published:2020-01-23 Issue:4 Volume:43 Page:712-725
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:Jrnl of Inher Metab Disea

Author:

Klinke Glynis¹,Richter Sylvia¹,Monostori Péter¹,Schmidt‐Mader Brigitte¹,García‐Cazorla Angels²,Artuch Rafael²,Christ Stine¹,Opladen Thomas¹,Hoffmann Georg F.¹,Blau Nenad¹,Okun Jürgen G.¹

Affiliation:

1. Department of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, Centre for Pediatric and Adolescent Medicine University Hospital Heidelberg Heidelberg Germany

2. Department of Clinical Biochemistry and Pediatric Neurology, Institut de Recerca Sant Joan de Déu Center for Biomedical Research on Rare Diseases (CIBERER) Barcelona Spain

Funder

European Commission

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12213

Reference30 articles.

1. Quo vadis: the re-definition of “inborn metabolic diseases”

2. A proposed nosology of inborn errors of metabolism