The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders-Reference-Cited by-同舟云学术

The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders

Published:2014-12-20 Issue:3 Volume:38 Page:391-403
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Sperl Wolfgang,Fleuren Leanne,Freisinger Peter,Haack Tobias B.,Ribes Antonia,Feichtinger René G.,Rodenburg Richard J.,Zimmermann Franz A.,Koch Johannes,Rivera Isabel,Prokisch Holger,Smeitink Jan A.,Mayr Johannes A.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-014-9787-3

Reference87 articles.

1. Ah Mew N, Loewenstein JB, Kadom N et al (2011) MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency. Pediatr Neurol 45:57–59

2. Ajit Bolar N, Vanlander AV, Wilbrecht C et al (2013) Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. Hum Mol Genet 22:2590–2602

3. Alfadhel M, Almuntashri M, Jadah RH et al (2013) Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases. Orphanet J Rare Dis 8:83

4. Aral B, Benelli C, Ait-Ghezala G et al (1997) Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis. Am J Hum Genet 61:1318–1326

5. Baker PR 2nd, Friederich MW, Swanson MA et al (2014) Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5. Brain 137:366–379

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