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Results: 1 to 20 of 43

Select item 224096611.

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]

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Select item 223786602.

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]

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Select item 219451733.

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]

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Select item 219081164.

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]

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Select item 218956445.

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]

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Select item 217234636.

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

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Select item 214704957.

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

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Select item 213201188.

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]

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Select item 211300139.

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]

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Select item 2069194410.

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]

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Select item 2050343311.

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]

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Select item 2002253012.

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]

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Select item 1958813213.

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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Select item 1909031114.

Anesthesia in a child with pyruvate dehydrogenase deficiency: a case report.

Gilmore DA, Mayhew J.

AANA J. 2008 Dec;76(6):432-3.

PMID:: 19090311; [PubMed - indexed for MEDLINE]

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Select item 1885511815.

Sensory-motor polyneuropathy occurring in variant maple syrup urine disease.

Harty S, King MD, McCoy B, Costigan D, Treacy EP.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S209-11. doi: 10.1007/s10545-008-0751-y. Epub 2008 Oct 16.

PMID:: 18855118; [PubMed - indexed for MEDLINE]

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Select item 1870950416.

Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency.

Ridout CK, Brown RM, Walter JH, Brown GK.

Hum Genet. 2008 Sep;124(2):187-93. doi: 10.1007/s00439-008-0538-0. Epub 2008 Aug 17.

PMID:: 18709504; [PubMed - indexed for MEDLINE]

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Select item 1855946617.

Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy.

Sedel F, Challe G, Mayer JM, Boutron A, Fontaine B, Saudubray JM, Brivet M.

J Neurol Neurosurg Psychiatry. 2008 Jul;79(7):846-7. doi: 10.1136/jnnp.2007.136630. No abstract available.

PMID:: 18559466; [PubMed - indexed for MEDLINE]

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Select item 1850467718.

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; [PubMed - indexed for MEDLINE]

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Select item 1843569719.

Anesthesia in pyruvate dehydrogenase deficiency.

Milojevic I, Simic D.

Paediatr Anaesth. 2008 Aug;18(8):794-5. doi: 10.1111/j.1460-9592.2008.02545.x. No abstract available.

PMID:: 18435697; [PubMed - indexed for MEDLINE]

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Select item 1839862420.

Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation.

João Silva M, Pinheiro A, Eusébio F, Gaspar A, Tavares de Almeida I, Rivera I.

Eur J Pediatr. 2009 Jan;168(1):17-22. doi: 10.1007/s00431-008-0700-7. Epub 2008 Apr 9.

PMID:: 18398624; [PubMed - indexed for MEDLINE]

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3 free full-text articles in PubMed Central

MRI features of 4 female patients with pyruvate dehydrogenase E1 alpha deficiency. [Pediatr Neurol. 2011]
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.
A combined therapeutic approach for pyruvate dehydrogenase deficiency using self-complementary adeno-associated virus serotype-specific vectors and dichloroacetate. [Mol Genet Metab. 2008]
A combined therapeutic approach for pyruvate dehydrogenase deficiency using self-complementary adeno-associated virus serotype-specific vectors and dichloroacetate.
Han Z, Berendzen K, Zhong L, Surolia I, Chouthai N, Zhao W, Maina N, Srivastava A, Stacpoole PW. Mol Genet Metab. 2008 Apr; 93(4):381-7. Epub 2008 Feb 21.
A zebrafish model for pyruvate dehydrogenase deficiency: rescue of neurological dysfunction and embryonic lethality using a ketogenic diet. [Proc Natl Acad Sci U S A. 2004]
A zebrafish model for pyruvate dehydrogenase deficiency: rescue of neurological dysfunction and embryonic lethality using a ketogenic diet.
Taylor MR, Hurley JB, Van Epps HA, Brockerhoff SE. Proc Natl Acad Sci U S A. 2004 Mar 30; 101(13):4584-9. Epub 2004 Mar 15.

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