Literature DB >> 2517465

The clinical and biochemical spectrum of human pyruvate dehydrogenase complex deficiency.

G K Brown1, R M Brown, R D Scholem, D M Kirby, H H Dahl.   

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Year:  1989        PMID： 2517465     DOI： 10.1111/j.1749-6632.1989.tb15011.x

Source DB:  PubMed          Journal:  Ann N Y Acad Sci        ISSN： 0077-8923            Impact factor:   5.691


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  19 in total

1.  Polymorphisms in the human X-linked pyruvate dehydrogenase E1 alpha gene.

Authors:  H H Dahl; W M Hutchison; Z Guo; S M Forrest; L L Hansen
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

2.  An animal model of PDH deficiency using AAV8-siRNA vector-mediated knockdown of pyruvate dehydrogenase E1α.

Authors:  Carolyn Ojano-Dirain; Lyudmyla G Glushakova; Li Zhong; Sergei Zolotukhin; Nicholas Muzyczka; Arun Srivastava; Peter W Stacpoole
Journal:  Mol Genet Metab       Date:  2010-07-15       Impact factor: 4.797

Review 3.  Pyruvate dehydrogenase deficiency.

Authors:  G K Brown; L J Otero; M LeGris; R M Brown
Journal:  J Med Genet       Date:  1994-11       Impact factor: 6.318

Review 4.  Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again.

Authors:  H H Dahl
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

5.  X chromosome inactivation and the diagnosis of X linked disease in females.

Authors:  R M Brown; G K Brown
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318

6.  Agenesis of corpus callosum: prenatal diagnosis and prognosis.

Authors:  Marie-Laure Moutard; Virginie Kieffer; Josué Feingold; François Kieffer; Fanny Lewin; Catherine Adamsbaum; Antoinette Gélot; Jaume Campistol I Plana; Patrick van Bogaert; Monique André; Gérard Ponsot
Journal:  Childs Nerv Syst       Date:  2003-07-04       Impact factor: 1.475

Review 7.  Pyruvate dehydrogenase E1 alpha deficiency.

Authors:  G K Brown
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

8.  Solution structure and characterisation of the human pyruvate dehydrogenase complex core assembly.

Authors:  S Vijayakrishnan; S M Kelly; R J C Gilbert; P Callow; D Bhella; T Forsyth; J G Lindsay; O Byron
Journal:  J Mol Biol       Date:  2010-03-31       Impact factor: 5.469

9.  Neuropathological findings of a patient with pyruvate dehydrogenase E1 alpha deficiency presenting as a cerebral lactic acidosis.

Authors:  A Michotte; L De Meirleir; W Lissens; R Denis; J L Wayenberg; I Liebaers; J M Brucher
Journal:  Acta Neuropathol       Date:  1993       Impact factor: 17.088

10.  Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency.

Authors:  L L Hansen; G K Brown; D M Kirby; H H Dahl
Journal:  J Inherit Metab Dis       Date:  1991       Impact factor: 4.982
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