Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency-Reference-Cited by-同舟云学术

Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

Published:2017-05-02 Issue:5 Volume:12 Page:e0176363
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Abela Lucia,Spiegel Ronen,Crowther Lisa M.,Klein Andrea,Steindl Katharina,Papuc Sorina Mihaela,Joset Pascal,Zehavi Yoav,Rauch Anita,Plecko Barbara,Simmons Thomas Luke

Funder

Novartis Stiftung für Medizinisch-Biologische Forschung

University of Zurich Clinical Research Priority Program, Rare Disease Initiative Zurich

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

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5. Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion;O Elpeleg;Am J Hum Genet,2005

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