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Items: 1 to 20 of 108

1.

Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase gamma (POLG1).

McFarland R, Hudson G, Taylor RW, Green SH, Hodges S, McKiernan PJ, Chinnery PF, Ramesh V.

Arch Dis Child. 2008 Feb;93(2):151-3. doi: 10.1136/adc.2007.122911.

PMID:
18208989
2.

Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation.

Hynynen J, Komulainen T, Tukiainen E, Nordin A, Arola J, Kälviäinen R, Jutila L, Röyttä M, Hinttala R, Majamaa K, Mäkisalo H, Uusimaa J.

Liver Transpl. 2014 Nov;20(11):1402-12. doi: 10.1002/lt.23965. Epub 2014 Oct 3.

3.

Reversible valproate hepatotoxicity due to mutations in mitochondrial DNA polymerase γ (POLG1).

McFarland R, Hudson G, Taylor RW, Green SH, Hodges S, McKiernan PJ, Chinnery PF, Ramesh V.

BMJ Case Rep. 2009;2009. pii: bcr12.2008.1303. doi: 10.1136/bcr.12.2008.1303. Epub 2009 May 10.

4.

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.

Saneto RP, Lee IC, Koenig MK, Bao X, Weng SW, Naviaux RK, Wong LJ.

Seizure. 2010 Apr;19(3):140-6. doi: 10.1016/j.seizure.2010.01.002. Epub 2010 Feb 6.

5.

Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene.

Pronicka E, Weglewska-Jurkiewicz A, Pronicki M, Sykut-Cegielska J, Kowalski P, Pajdowska M, Jankowska I, Kotulska K, Kalicinski P, Jakobkiewicz-Banecka J, Wegrzyn G.

Med Sci Monit. 2011 Apr;17(4):CR203-9.

6.

Acute liver failure after valproate exposure: Liver transplantation may be indicated beyond childhood.

McKiernan P.

Liver Transpl. 2014 Nov;20(11):1287-9. doi: 10.1002/lt.23988. No abstract available.

7.

Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.

Uusimaa J, Hinttala R, Rantala H, Päivärinta M, Herva R, Röyttä M, Soini H, Moilanen JS, Remes AM, Hassinen IE, Majamaa K.

Epilepsia. 2008 Jun;49(6):1038-45. doi: 10.1111/j.1528-1167.2008.01544.x. Epub 2008 Feb 20.

8.

Inappropriate liver transplantation in a child with Alpers-Huttenlocher syndrome misdiagnosed as valproate-induced acute liver failure.

Delarue A, Paut O, Guys JM, Montfort MF, Lethel V, Roquelaure B, Pellissier JF, Sarles J, Camboulives J.

Pediatr Transplant. 2000 Feb;4(1):67-71.

PMID:
10731063
9.

Valproic acid aggravates epilepsy due to MELAS in a patient with an A3243G mutation of mitochondrial DNA.

Lin CM, Thajeb P.

Metab Brain Dis. 2007 Mar;22(1):105-9. Epub 2007 Jan 17. Erratum in: Metab Brain Dis. 2007 Dec;22(3-4):425.

PMID:
17226098
10.

[Acute hepatic failure associated with valproic acid in children. Report of 3 cases].

Antoniuk SA, Bruck I, Hönnicke LR, Martins LT, Carreiro JE, Cat R.

Arq Neuropsiquiatr. 1996 Dec;54(4):652-4. Portuguese.

PMID:
9201347
11.

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

Horvath R, Hudson G, Ferrari G, Fütterer N, Ahola S, Lamantea E, Prokisch H, Lochmüller H, McFarland R, Ramesh V, Klopstock T, Freisinger P, Salvi F, Mayr JA, Santer R, Tesarova M, Zeman J, Udd B, Taylor RW, Turnbull D, Hanna M, Fialho D, Suomalainen A, Zeviani M, Chinnery PF.

Brain. 2006 Jul;129(Pt 7):1674-84. Epub 2006 Apr 18.

PMID:
16621917
12.

Polymerase γ gene POLG determines the risk of sodium valproate-induced liver toxicity.

Stewart JD, Horvath R, Baruffini E, Ferrero I, Bulst S, Watkins PB, Fontana RJ, Day CP, Chinnery PF.

Hepatology. 2010 Nov;52(5):1791-6. doi: 10.1002/hep.23891.

13.

Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma.

Zsurka G, Baron M, Stewart JD, Kornblum C, Bös M, Sassen R, Taylor RW, Elger CE, Chinnery PF, Kunz WS.

J Neuropathol Exp Neurol. 2008 Sep;67(9):857-66. doi: 10.1097/NEN.0b013e3181839b2d.

PMID:
18716558
14.

Valproate hepatotoxicity in a 5-year-old boy with cerebral palsy due to neonatal asphyxia.

Kakinuma H, Fujiki T, Nakamura T, Takahashi H.

Pediatr Int. 2006 Dec;48(6):631-3. No abstract available.

PMID:
17168987
15.

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.

Ashley N, O'Rourke A, Smith C, Adams S, Gowda V, Zeviani M, Brown GK, Fratter C, Poulton J.

Hum Mol Genet. 2008 Aug 15;17(16):2496-506. doi: 10.1093/hmg/ddn150. Epub 2008 May 16. Erratum in: Hum Mol Genet. 2009 Dec 15;18(24):4905-6.

16.

Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.

Ferrari G, Lamantea E, Donati A, Filosto M, Briem E, Carrara F, Parini R, Simonati A, Santer R, Zeviani M.

Brain. 2005 Apr;128(Pt 4):723-31. Epub 2005 Feb 2.

PMID:
15689359
17.

Valproate-induced liver failure in one of two siblings with Alpers disease.

Schwabe MJ, Dobyns WB, Burke B, Armstrong DL.

Pediatr Neurol. 1997 May;16(4):337-43.

PMID:
9258971
18.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.

Tang S, Dimberg EL, Milone M, Wong LJ.

J Neurol. 2012 May;259(5):862-8. doi: 10.1007/s00415-011-6268-6. Epub 2011 Oct 13.

PMID:
21993618
19.

Brain pseudoatrophy and mental regression on valproate and a mitochondrial DNA mutation.

Galimberti CA, Diegoli M, Sartori I, Uggetti C, Brega A, Tartara A, Arbustini E.

Neurology. 2006 Nov 14;67(9):1715-7. No abstract available.

PMID:
17101920
20.

POLG1 mutations associated with progressive encephalopathy in childhood.

Kollberg G, Moslemi AR, Darin N, Nennesmo I, Bjarnadottir I, Uvebrant P, Holme E, Melberg A, Tulinius M, Oldfors A.

J Neuropathol Exp Neurol. 2006 Aug;65(8):758-68.

PMID:
16896309

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