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Items: 8

1.

Defects in the E2 lipoyl transacetylase and the X-lipoyl containing component of the pyruvate dehydrogenase complex in patients with lactic acidemia.

Robinson BH, MacKay N, Petrova-Benedict R, Ozalp I, Coskun T, Stacpoole PW.

J Clin Invest. 1990 Jun;85(6):1821-4.

2.

Deficiency of the alpha and beta subunits of pyruvate dehydrogenase in a patient with lactic acidosis and unexpected sudden death.

Sperl W, Ruitenbeek W, Kerkhof CM, Sengers RC, Trijbels JM, Guggenbichler JP, Janssen AJ, Bakkeren JA.

Eur J Pediatr. 1990 Apr;149(7):487-92. Review.

PMID:
2189731
3.

Genetic defects in human pyruvate dehydrogenase.

Ho L, Wexler ID, Kerr DS, Patel MS.

Ann N Y Acad Sci. 1989;573:347-59. Review.

PMID:
2517464
4.

Pyruvate dehydrogenase E1 alpha deficiency.

Brown GK.

J Inherit Metab Dis. 1992;15(4):625-33. Review.

PMID:
1528021
5.

Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis.

Aral B, Benelli C, Ait-Ghezala G, Amessou M, Fouque F, Maunoury C, Créau N, Kamoun P, Marsac C.

Am J Hum Genet. 1997 Dec;61(6):1318-26. Review.

6.

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency.

Odièvre MH, Chretien D, Munnich A, Robinson BH, Dumoulin R, Masmoudi S, Kadhom N, Rötig A, Rustin P, Bonnefont JP.

Hum Mutat. 2005 Mar;25(3):323-4. Review.

PMID:
15712224
7.

Disorders of the pyruvate dehydrogenase complex.

Stansbie D, Wallace SJ, Marsac C.

J Inherit Metab Dis. 1986;9(2):105-19. Review.

PMID:
3018357
8.

The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Patel KP, O'Brien TW, Subramony SH, Shuster J, Stacpoole PW.

Mol Genet Metab. 2012 Jan;105(1):34-43. doi: 10.1016/j.ymgme.2011.09.032. Epub 2011 Oct 7. Review. Erratum in: Mol Genet Metab. 2012 Jul;106(3):384. Corrected and republished in: Mol Genet Metab. 2012 Jul;106(3):385-94.

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