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Heterogeneous expression of protein and mRNA in pyruvate dehydrogenase deficiency. [electronic resource] by
- Wexler, I D
- Kerr, D S
- Ho, L
- Lusk, M M
- Pepin, R A
- Javed, A A
- Mole, J E
- Jesse, B W
- Thekkumkara, T J
- Pons, G
Producer: 19881121
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 85
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The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders. [electronic resource] by
- 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
Producer: 20160325
In:
Journal of inherited metabolic disease vol. 38
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131.
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Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency. [electronic resource] by
- Pirot, Nathalie
- Crahes, Marie
- Adle-Biassette, Homa
- Soares, Anais
- Bucourt, Martine
- Boutron, Audrey
- Carbillon, Lionel
- Mignot, Cyril
- Trestard, Laetitia
- Bekri, Soumeya
- Laquerrière, Annie
Producer: 20160706
In:
Journal of neuropathology and experimental neurology vol. 75
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132.
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[Clinical features of pyruvate dehydrogenase complex deficiency and gene testing in one case]. [electronic resource] by
- Wu, Moling
- Liu, Li
- Cai, Yanna
- Sheng, Huiying
- Cheng, Jing
- Li, Xiuzhen
- Yin, Xi
- Lu, Zhikun
- Lin, Ruizhu
- Zhou, Zhizi
- Fan, Liping
- Liu, Hongsheng
Producer: 20150516
In:
Zhonghua er ke za zhi = Chinese journal of pediatrics vol. 52
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