| 1 | LGS, PDHA1D
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| Phenotypic and Neuropathological Characterization of Fetal Pyruvate Dehydrogenase Deficiency
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| Pirot N, Crahes M, Adle-Biassette H, Soares A, Bucourt M, Boutron A, Carbillon L, Mignot C, Trestard L, Bekri S, Laquerrière A.
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| J Neuropathol Exp Neurol. Mar;75(3):227-38. doi: 10.1093/jnen/nlv022. Epub 2016 Feb 9. 2016
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| 2 | LGS, PDHA1, PDHA1D
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| Cerebral palsy and pyruvate dehydrogenase deficiency: identification of two new mutations in the E1alpha gene.
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| Lissens W, Vreken P, Barth PG, Wijburg FA, Ruitenbeek W, Wanders RJ, Seneca S, Liebaers I, De Meirleir L.
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| Eur J Pediatr 158(10):853-7 1999
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| 3 | LGS, PDHA1, PDHA1D
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| Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity.
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| Otero LJ, et al.
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| Hum Mutat 12 : 114-121. 1998
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| 4 | LGS, PDHA1, PDHA1D
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| Biochemical and molecular analysis of an X-linked case of Leigh syndrome associated with thiamin-responsive pyruvate dehydrogenase deficiency.
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| Naito E, Ito M, Yokota I, Saijo T, Matsuda J, Osaka H, Kimura S, Kuroda Y.
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| J Inherit Metab Dis 20(4):539-48. 1997
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| 5 | LGS, PDHA1, PDHA1D
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| Mutation analysis of the pyruvate dehydrogenase E1alpha gene in eight patients with a pyruvate dehydrogenase complex deficiency.
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| Lissens W, et al.
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| Hum Mutat 7 : 46-51. 1996
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| 6 | LGS, PDHA1, SNE1, SNELS, SURF1
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| Leigh syndrome : clinical features and biochemical and DNA abnormalities.
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| Rahman S, et al.
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| Ann Neurol 39 : 343-351. 1996
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| 7 | PDHA1, LGS
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| Molecular genetic characterization of an X-linked form of Leigh's syndrome.
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| Matthews PM, Marchington DR, Squier M, Land J, Brown RM, Brown GK.
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| Ann Neurol 33(6):652-5. 1993
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| 8 | LGS, PDHA1, PDHA1D, PDHB
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| Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh disease).
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| Kretzschmar HA, et al.
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| Pediatrics 79 : 370-373. 1987
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| 9 | LGS, PDHA1, PDHA1D
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| Lacticacidaemia due to pyruvate dehydrogenase deficiency, with evidence of protein polymorphism in the alpha-subunit of the enzyme.
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| McKay N, et al.
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| Eur J Pediatr 144 : 445-450. 1986
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| 10 | LGS, PDHA1, PDHA1D, PDHB
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| Biochemical studies with 28 children with lactic acidosis, in relation to Leighs' encephalomyelopathy.
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| Miyabayashi S, et al.
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| Eur J Pediatr 143 : 278-282. 1985
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