Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis-Reference-Cited by-同舟云学术

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

Published:2012-01-10 Issue:5 Volume:35 Page:749-759
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Honzik Tomas,Tesarova Marketa,Magner Martin,Mayr Johannes,Jesina Pavel,Vesela Katerina,Wenchich Laszlo,Szentivanyi Karol,Hansikova Hana,Sperl Wolfgang,Zeman Jiri

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-011-9440-3

Reference63 articles.

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2. Antonicka H, Mattman A, Carlson CG et al. (2003b) Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy. Am J Hum Genet 72:101–114

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4. Barnerias C, Saudubray JM, Touati G et al. (2010) Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis. Dev Med Child Neurol 52:e1–e9

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