Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content-Reference-Cited by-同舟云学术

Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content

Published:2015-05-27 Issue:3 Volume:24 Page:367-372
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Asencio Claudio,Rodríguez-Hernandez María A,Briones Paz,Montoya Julio,Cortés Ana,Emperador Sonia,Gavilán Angela,Ruiz-Pesini Eduardo,Yubero Dèlia,Montero Raquel,Pineda Mercedes,O'Callaghan María M,Alcázar-Fabra María,Salviati Leonardo,Artuch Rafael,Navas Plácido

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2015112.pdf

Reference19 articles.

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3. Emmanuele V, López LC, López L et al: Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. Arch Neurol 2012; 69: 978–983.

4. Laredj LN, Licitra F, Puccio HM : The molecular genetics of coenzyme Q biosynthesis in health and disease. Biochimie 2014; 100: 78–87.

5. Doimo M, Desbats MA, Cerqua C, Cassina M, Trevisson E, Salviati L : Genetics of coenzyme Q10 deficiency. Mol Syndromol 2014; 5: 156–162.

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