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Items: 1 to 20 of 93

1.

Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia.

McWilliam CA, Ridout CK, Brown RM, McWilliam RC, Tolmie J, Brown GK.

Eur J Paediatr Neurol. 2010 Jul;14(4):349-53. doi: 10.1016/j.ejpn.2009.11.001. Epub 2009 Dec 21.

PMID:
20022530
2.

Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: dihydrolipoamide acetyltransferase (E2) deficiency.

Head RA, Brown RM, Zolkipli Z, Shahdadpuri R, King MD, Clayton PT, Brown GK.

Ann Neurol. 2005 Aug;58(2):234-41.

PMID:
16049940
3.

Spectrum of neurological and survival outcomes in pyruvate dehydrogenase complex (PDC) deficiency: lack of correlation with genotype.

DeBrosse SD, Okajima K, Zhang S, Nakouzi G, Schmotzer CL, Lusk-Kopp M, Frohnapfel MB, Grahame G, Kerr DS.

Mol Genet Metab. 2012 Nov;107(3):394-402. doi: 10.1016/j.ymgme.2012.09.001. Epub 2012 Sep 7.

PMID:
23021068
4.

Pyruvate dehydrogenase deficiency presenting as dystonia in childhood.

Head RA, de Goede CG, Newton RW, Walter JH, McShane MA, Brown RM, Brown GK.

Dev Med Child Neurol. 2004 Oct;46(10):710-2.

5.

Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia.

Debray FG, Lambert M, Gagne R, Maranda B, Laframboise R, MacKay N, Robinson BH, Mitchell GA.

Neuropediatrics. 2008 Feb;39(1):20-3. doi: 10.1055/s-2008-1077084.

PMID:
18504677
6.

Progressive dystonia in a 12-year-old boy.

Klepper J, Schaper J, Raca G, Coryell J, Das S, Hayflick SJ, Voit T.

Eur J Paediatr Neurol. 2003;7(2):85-8.

PMID:
12697433
7.

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis.

Barnerias C, Saudubray JM, Touati G, De Lonlay P, Dulac O, Ponsot G, Marsac C, Brivet M, Desguerre I.

Dev Med Child Neurol. 2010 Feb;52(2):e1-9. doi: 10.1111/j.1469-8749.2009.03541.x. Epub 2009 Dec 1.

8.

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.

9.

Prenatal diagnosis of pyruvate dehydrogenase deficiency using magnetic resonance imaging.

Robinson JN, Norwitz ER, Mulkern R, Brown SA, Rybicki F, Tempany CM.

Prenat Diagn. 2001 Dec;21(12):1053-6.

PMID:
11746163
10.

Defects of pyruvate metabolism and the Krebs cycle.

De Meirleir L.

J Child Neurol. 2002 Dec;17 Suppl 3:3S26-33; discussion 3S33-4. Review.

PMID:
12597053
11.

Defect in the lipoyl-bearing protein X subunit of the pyruvate dehydrogenase complex in two patients with encephalomyelopathy.

Marsac C, Stansbie D, Bonne G, Cousin J, Jehenson P, Benelli C, Leroux JP, Lindsay G.

J Pediatr. 1993 Dec;123(6):915-20.

PMID:
8229524
12.

Neonatal pyruvate dehydrogenase deficiency due to a R302H mutation in the PDHA1 gene: MRI findings.

Soares-Fernandes JP, Teixeira-Gomes R, Cruz R, Ribeiro M, Magalhães Z, Rocha JF, Leijser LM.

Pediatr Radiol. 2008 May;38(5):559-62. doi: 10.1007/s00247-007-0721-9. Epub 2008 Jan 16.

PMID:
18197404
13.

Optic neuropathy in a patient with pyruvate dehydrogenase deficiency.

Small JE, Gonzalez GE, Nagao KE, Walton DS, Caruso PA.

Pediatr Radiol. 2009 Oct;39(10):1114-7. doi: 10.1007/s00247-009-1344-0. Epub 2009 Jul 9.

PMID:
19588132
14.

Outcome of pyruvate dehydrogenase deficiency treated with ketogenic diets. Studies in patients with identical mutations.

Wexler ID, Hemalatha SG, McConnell J, Buist NR, Dahl HH, Berry SA, Cederbaum SD, Patel MS, Kerr DS.

Neurology. 1997 Dec;49(6):1655-61.

PMID:
9409363
15.

Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.

Debray FG, Lambert M, Vanasse M, Decarie JC, Cameron J, Levandovskiy V, Robinson BH, Mitchell GA.

Eur J Pediatr. 2006 Jul;165(7):462-6. Epub 2006 Mar 22.

PMID:
16552546
16.

[E2 and E3 deficiency of pyruvate dehydrogenase complex].

Matuda S.

Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):666-9. Japanese. No abstract available.

PMID:
3152088
18.

Clinical diversity of pyruvate dehydrogenase deficiency.

Cross JH, Connelly A, Gadian DG, Kendall BE, Brown GK, Brown RM, Leonard JV.

Pediatr Neurol. 1994 Jun;10(4):276-83.

PMID:
8068153
19.

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
20.

Pantothenate kinase 2 mutation with classic pantothenate-kinase-associated neurodegeneration without 'eye-of-the-tiger' sign on MRI in a pair of siblings.

Zolkipli Z, Dahmoush H, Saunders DE, Chong WK, Surtees R.

Pediatr Radiol. 2006 Aug;36(8):884-6. Epub 2006 Jun 7.

PMID:
16758184

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