Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9-Reference-Cited by-同舟云学术

Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

Published:2015-06-17 Issue:3 Volume:24 Page:450-454
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Danhauser Katharina,Herebian Diran,Haack Tobias B,Rodenburg Richard J,Strom Tim M,Meitinger Thomas,Klee Dirk,Mayatepek Ertan,Prokisch Holger,Distelmaier Felix

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2015133.pdf

Reference14 articles.

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3. Doimo M, Desbats MA, Cerqua C, Cassina M, Trevisson E, Salviati L : Genetics of coenzyme q10 deficiency. Mol Syndromol 2014; 5: 156–162.

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

5. Quinzii CM, Emmanuele V, Hirano M 2014 Clinical presentations of coenzyme q10 deficiency syndrome. Mol Syndromol 2014; 5: 141–146.

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