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Results: 1 to 20 of 123

1.

Novel deoxyguanosine kinase gene mutations and viral infection predispose apparently healthy children to fulminant liver failure.

Shieh JT, Berquist WE, Zhang Q, Chou PC, Wong LJ, Enns GM.

J Pediatr Gastroenterol Nutr. 2009 Jul;49(1):130-2. doi: 10.1097/MPG.0b013e31819de7a6. No abstract available.

PMID:
19502998
[PubMed - indexed for MEDLINE]
2.

De novo mutations in POLG presenting with acute liver failure or encephalopathy.

Lutz RE, Dimmock D, Schmitt ES, Zhang Q, Tang LY, Reyes C, Truemper E, McComb RD, Hernandez A, Basinger A, Wong LJ.

J Pediatr Gastroenterol Nutr. 2009 Jul;49(1):126-9. doi: 10.1097/MPG.0b013e31817d9cad. No abstract available.

PMID:
19252446
[PubMed - indexed for MEDLINE]
3.

New DGK gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.

Mancuso M, Ferraris S, Pancrudo J, Feigenbaum A, Raiman J, Christodoulou J, Thorburn DR, DiMauro S.

Arch Neurol. 2005 May;62(5):745-7.

PMID:
15883261
[PubMed - indexed for MEDLINE]
4.

A novel mutation in the deoxyguanosine kinase gene causing depletion of mitochondrial DNA.

Taanman JW, Kateeb I, Muntau AC, Jaksch M, Cohen N, Mandel H.

Ann Neurol. 2002 Aug;52(2):237-9.

PMID:
12210798
[PubMed - indexed for MEDLINE]
5.

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.

Dimmock DP, Zhang Q, Dionisi-Vici C, Carrozzo R, Shieh J, Tang LY, Truong C, Schmitt E, Sifry-Platt M, Lucioli S, Santorelli FM, Ficicioglu CH, Rodriguez M, Wierenga K, Enns GM, Longo N, Lipson MH, Vallance H, Craigen WJ, Scaglia F, Wong LJ.

Hum Mutat. 2008 Feb;29(2):330-1. doi: 10.1002/humu.9519.

PMID:
18205204
[PubMed - indexed for MEDLINE]
6.

The first founder DGUOK mutation associated with hepatocerebral mitochondrial DNA depletion syndrome.

Brahimi N, Jambou M, Sarzi E, Serre V, Boddaert N, Romano S, de Lonlay P, Slama A, Munnich A, Rötig A, Bonnefont JP, Lebre AS.

Mol Genet Metab. 2009 Jul;97(3):221-6. doi: 10.1016/j.ymgme.2009.03.007. Epub 2009 Mar 27.

PMID:
19394258
[PubMed - indexed for MEDLINE]
7.

Periodic fever in children with hyperimmunoglobulinemia D and mevalonate kinase mutations.

Grose C.

Pediatr Infect Dis J. 2005 Jun;24(6):573-4.

PMID:
15933578
[PubMed - indexed for MEDLINE]
8.

Pantothenate kinase-associated neurodegeneration: clinical description of 10 patients and identification of new mutations.

Assami S, Azzedine H, Nouioua S, Mundwiller E, Mahoui S, Makri S, Djemai M, Grid D, Brice A, Hamadouche T, Stevanin G, Tazir M.

Mov Disord. 2011 Aug 1;26(9):1777-9. doi: 10.1002/mds.23648. Epub 2011 Mar 25. No abstract available.

PMID:
21442655
[PubMed - indexed for MEDLINE]
9.

Novel mutation in PANK2 associated with retinal telangiectasis.

Sohn EH, Michaelides M, Bird AC, Roberts CJ, Moore AT, Smyth D, Brady AF, Hungerford JL.

Br J Ophthalmol. 2011 Jan;95(1):149-50. doi: 10.1136/bjo.2010.183616. Epub 2010 Oct 24. No abstract available.

PMID:
20974629
[PubMed - indexed for MEDLINE]
10.

Pantothenate kinase-associated neurodegeneration in two Chinese children: identification of a novel PANK2 gene mutation.

Chan KY, Lam CW, Lee LP, Tong SF, Yuen YP.

Hong Kong Med J. 2008 Feb;14(1):70-3.

PMID:
18239249
[PubMed - indexed for MEDLINE]
Free Article
11.

A novel PANK2 gene mutation: clinical and molecular characteristics of patients short communication.

Kazek B, Jamroz E, Gencik M, Jezela Stanek A, Marszal E, Wojaczynska-Stanek K.

J Child Neurol. 2007 Nov;22(11):1256-9.

PMID:
18006953
[PubMed - indexed for MEDLINE]
12.

A pregnant patient with fulminant hepatic failure was found to carry a novel missense mutation in the argininosuccinate synthetase gene.

Ito S, Kurasawa G, Yamamoto K, Furuta I, Ishihara F, Kobayashi K, Saheki T, Matsuura T, Yamauchi M, Kakinoki H.

J Gastroenterol. 2004 Nov;39(11):1115-7. No abstract available.

PMID:
15580409
[PubMed - indexed for MEDLINE]
13.

Adenovirus infection as possible cause of acute liver failure in a healthy child: a case report.

Ozbay Hoşnut F, Canan O, Ozçay F, Bilezikçi B.

Turk J Gastroenterol. 2008 Dec;19(4):281-3.

PMID:
19119490
[PubMed - indexed for MEDLINE]
14.

Novel genotype of mevalonic aciduria with fatalities in premature siblings.

Raupp P, Varady E, Duran M, Wanders RJ, Waterham HR, Houten SM.

Arch Dis Child Fetal Neonatal Ed. 2004 Jan;89(1):F90-1.

PMID:
14711867
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Pantothenate kinase-associated neurodegeneration in two Taiwanese siblings: identification of a novel PANK2 gene mutation.

Wu YR, Chen CM, Chao CY, Lyu RK, Lee-Chen GJ.

Mov Disord. 2009 Apr 30;24(6):940-1. doi: 10.1002/mds.22458. No abstract available.

PMID:
19224615
[PubMed - indexed for MEDLINE]
16.

[Otitis media--a hereditary disease?].

Schaad UB.

HNO. 2000 May;48(5):343-5. German. No abstract available.

PMID:
10872113
[PubMed - indexed for MEDLINE]
17.

"Progressive delayed-onset postanoxic dystonia" diagnosed with PANK2 mutations 26 years after onset-an update.

Kojovic M, Kuoppamäki M, Quinn N, Bhatia KP.

Mov Disord. 2010 Dec 15;25(16):2889-91. doi: 10.1002/mds.23153. No abstract available.

PMID:
20925075
[PubMed - indexed for MEDLINE]
18.

Pathogenesis of liver injury in acute liver failure.

Chung RT, Stravitz RT, Fontana RJ, Schiodt FV, Mehal WZ, Reddy KR, Lee WM.

Gastroenterology. 2012 Sep;143(3):e1-7. doi: 10.1053/j.gastro.2012.07.011. Epub 2012 Jul 13. No abstract available.

PMID:
22796239
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Gene symbol: PANK2. Disease: Pantothenate kinase associated neurodegeneration (PKAN).

Wieczorek S, Epplen JT.

Hum Genet. 2005 May;116(6):535. No abstract available.

PMID:
15991305
[PubMed - indexed for MEDLINE]
20.

Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN).

Westaway SK, Ching KH, Levinson B, Gitschier J, Hayflick SJ.

Hum Genet. 2006 Jul;119(6):679. No abstract available.

PMID:
17128480
[PubMed - indexed for MEDLINE]

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