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Results: 1 to 20 of 45

1.

HIBCH mutations can cause Leigh-like disease with combined deficiency of multiple mitochondrial respiratory chain enzymes and pyruvate dehydrogenase.

Ferdinandusse S, Waterham HR, Heales SJ, Brown GK, Hargreaves IP, Taanman JW, Gunny R, Abulhoul L, Wanders RJ, Clayton PT, Leonard JV, Rahman S.

Orphanet J Rare Dis. 2013 Dec 4;8:188. doi: 10.1186/1750-1172-8-188.

PMID:
24299452
[PubMed - indexed for MEDLINE]
Free Article
2.

Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites.

Clarke C, Xiao R, Place E, Zhang Z, Sondheimer N, Bennett M, Yudkoff M, Falk MJ.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):145-52. doi: 10.1016/j.ymgme.2013.07.011. Epub 2013 Jul 19.

PMID:
23920046
[PubMed - indexed for MEDLINE]
3.

Respiratory chain deficiencies.

Delonlay P, Rötig A, Sarnat HB.

Handb Clin Neurol. 2013;113:1651-66. doi: 10.1016/B978-0-444-59565-2.00033-2. Review.

PMID:
23622386
[PubMed - indexed for MEDLINE]
4.

Metabolic neuropathies and myopathies.

D'Amico A, Bertini E.

Handb Clin Neurol. 2013;113:1437-55. doi: 10.1016/B978-0-444-59565-2.00013-7. Review.

PMID:
23622366
[PubMed - indexed for MEDLINE]
5.

Ataxia.

Winchester S, Singh PK, Mikati MA.

Handb Clin Neurol. 2013;112:1213-7. doi: 10.1016/B978-0-444-52910-7.00043-X. Review.

PMID:
23622331
[PubMed - indexed for MEDLINE]
6.

Ketogenic diet: an early option for epilepsy treatment, instead of a last choice only.

Wang HS, Lin KL.

Biomed J. 2013 Jan-Feb;36(1):16-7. doi: 10.4103/2319-4170.107155. Review.

PMID:
23515149
[PubMed - indexed for MEDLINE]
Free Article
7.

Pyruvate dehydrogenase deficiency caused by a new mutation of PDHX gene in two Moroccan patients.

Tajir M, Arnoux JB, Boutron A, Elalaoui SC, De Lonlay P, Sefiani A, Brivet M.

Eur J Med Genet. 2012 Oct;55(10):535-40. doi: 10.1016/j.ejmg.2012.06.006. Epub 2012 Jul 20.

PMID:
22766002
[PubMed - indexed for MEDLINE]
8.

Pyruvate dehydrogenase deficiency and the brain.

Brown G.

Dev Med Child Neurol. 2012 May;54(5):395-6. doi: 10.1111/j.1469-8749.2012.04266.x. Epub 2012 Mar 12. No abstract available.

PMID:
22409661
[PubMed - indexed for MEDLINE]
9.

Case report of pyruvate dehydrogenase deficiency with unusual increase of fats during ketogenic diet treatment.

Di Pisa V, Cecconi I, Gentile V, Di Pietro E, Marchiani V, Verrotti A, Franzoni E.

J Child Neurol. 2012 Dec;27(12):1593-6. doi: 10.1177/0883073812436424. Epub 2012 Feb 28.

PMID:
22378660
[PubMed - indexed for MEDLINE]
10.

Alternating hemiplegia of childhood: metabolic studies in the largest European series of patients.

Fons C, Campistol J, Panagiotakaki E, Giannotta M, Arzimanoglou A, Gobbi G, Neville B, Ebinger F, Nevšímalová S, Laan L, Casaer P, Spiel G, Ninan M, Sange G, Artuch R, Schyns T, Vavassori R, Poncelin D; ENRAH Consortium.

Eur J Paediatr Neurol. 2012 Jan;16(1):10-4. doi: 10.1016/j.ejpn.2011.08.006. Epub 2011 Sep 25.

PMID:
21945173
[PubMed - indexed for MEDLINE]
11.

Pyruvate dehydrogenase deficiency and epilepsy.

Prasad C, Rupar T, Prasad AN.

Brain Dev. 2011 Nov;33(10):856-65. doi: 10.1016/j.braindev.2011.08.003. Epub 2011 Sep 9. Review.

PMID:
21908116
[PubMed - indexed for MEDLINE]
12.

Unilateral periventricular leukomalacia in association with pyruvate dehydrogenase deficiency.

Sharma R, Sharrard MJ, Connolly DJ, Mordekar SR.

Dev Med Child Neurol. 2012 May;54(5):469-71. doi: 10.1111/j.1469-8749.2011.04108.x. Epub 2011 Sep 6.

PMID:
21895644
[PubMed - indexed for MEDLINE]
13.

MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency.

Ah Mew N, Loewenstein JB, Kadom N, Lichter-Konecki U, Gropman AL, Martin JM, Vanderver A.

Pediatr Neurol. 2011 Jul;45(1):57-9. doi: 10.1016/j.pediatrneurol.2011.02.003.

PMID:
21723463
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Two patients with clinically distinct manifestation of pyruvate dehydrogenase deficiency due to mutations in PDHA1 gene.

Magner M, Vinšová K, Tesařová M, Hájková Z, Hansíková H, Wenchich L, Ješina P, Smolka V, Adam T, Vaněčková M, Zeman J, Honzík T.

Prague Med Rep. 2011;112(1):18-28.

PMID:
21470495
[PubMed - indexed for MEDLINE]
Free Article
15.

The clinical spectrum of nodular heterotopias in children: report of 31 patients.

Srour M, Rioux MF, Varga C, Lortie A, Major P, Robitaille Y, Décarie JC, Michaud J, Carmant L.

Epilepsia. 2011 Apr;52(4):728-37. doi: 10.1111/j.1528-1167.2010.02975.x. Epub 2011 Feb 14.

PMID:
21320118
[PubMed - indexed for MEDLINE]
16.

Follow-up of a child with pyruvate dehydrogenase deficiency on a less restrictive ketogenic diet.

El-Gharbawy AH, Boney A, Young SP, Kishnani PS.

Mol Genet Metab. 2011 Feb;102(2):214-5. doi: 10.1016/j.ymgme.2010.11.001. Epub 2010 Nov 9.

PMID:
21130013
[PubMed - indexed for MEDLINE]
17.

Zonisamide ameliorates symptoms of secondary paroxysmal dystonia.

Egel RT, Hoganson GE, Katerji MA, Borenstein MJ.

Pediatr Neurol. 2010 Sep;43(3):205-8. doi: 10.1016/j.pediatrneurol.2010.04.008.

PMID:
20691944
[PubMed - indexed for MEDLINE]
18.

Impact of selected inborn errors of metabolism on prenatal and neonatal development.

Illsinger S, Das AM.

IUBMB Life. 2010 Jun;62(6):403-13. doi: 10.1002/iub.336. Review.

PMID:
20503433
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

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
[PubMed - indexed for MEDLINE]

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