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Items: 20

1.

Incidence of Primary Mitochondrial Disease in Children Younger Than 2 Years Presenting With Acute Liver Failure.

McKiernan P, Ball S, Santra S, Foster K, Fratter C, Poulton J, Craig K, McFarland R, Rahman S, Hargreaves I, Gupte G, Sharif K, Taylor RW.

J Pediatr Gastroenterol Nutr. 2016 Dec;63(6):592-597.

2.

Recurrent recessive mutation in deoxyguanosine kinase causes idiopathic noncirrhotic portal hypertension.

Vilarinho S, Sari S, Yilmaz G, Stiegler AL, Boggon TJ, Jain D, Akyol G, Dalgic B, Günel M, Lifton RP.

Hepatology. 2016 Jun;63(6):1977-86. doi: 10.1002/hep.28499. Epub 2016 Mar 31.

3.

Long-term outcomes after liver transplantation for deoxyguanosine kinase deficiency: a single-center experience and a review of the literature.

Grabhorn E, Tsiakas K, Herden U, Fischer L, Freisinger P, Marquardt T, Ganschow R, Briem-Richter A, Santer R.

Liver Transpl. 2014 Apr;20(4):464-72. doi: 10.1002/lt.23830. Epub 2014 Feb 25. Review.

4.

Novel deoxyguanosine kinase gene mutations in the hepatocerebral form of mitochondrial DNA depletion syndrome.

Sezer T, Ozçay F, Balci O, Alehan F.

J Child Neurol. 2015 Jan;30(1):124-8. doi: 10.1177/0883073813517000. Epub 2014 Jan 14.

PMID:
24423689
5.

Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.

Al-Hussaini A, Faqeih E, El-Hattab AW, Alfadhel M, Asery A, Alsaleem B, Bakhsh E, Ali A, Alasmari A, Lone K, Nahari A, Eyaid W, Al Balwi M, Craig K, Butterworth A, He L, Taylor RW.

J Pediatr. 2014 Mar;164(3):553-9.e1-2. doi: 10.1016/j.jpeds.2013.10.082. Epub 2013 Dec 8.

PMID:
24321534
6.

Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options.

El-Hattab AW, Scaglia F.

Neurotherapeutics. 2013 Apr;10(2):186-98. doi: 10.1007/s13311-013-0177-6. Review.

7.

Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.

Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, Comi GP, Sciacco M.

Brain. 2012 Nov;135(Pt 11):3404-15. doi: 10.1093/brain/aws258. Epub 2012 Oct 4.

8.

Recessive deoxyguanosine kinase deficiency causes juvenile onset mitochondrial myopathy.

Buchaklian AH, Helbling D, Ware SM, Dimmock DP.

Mol Genet Metab. 2012 Sep;107(1-2):92-4. doi: 10.1016/j.ymgme.2012.04.019. Epub 2012 Apr 26.

PMID:
22622127
9.

Two patients with hepatic mtDNA depletion syndromes and marked elevations of S-adenosylmethionine and methionine.

Mudd SH, Wagner C, Luka Z, Stabler SP, Allen RH, Schroer R, Wood T, Wang J, Wong LJ.

Mol Genet Metab. 2012 Feb;105(2):228-36. doi: 10.1016/j.ymgme.2011.11.006. Epub 2011 Nov 12.

10.

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.

Hanchard NA, Shchelochkov OA, Roy A, Wiszniewska J, Wang J, Popek EJ, Karpen S, Wong LJ, Scaglia F.

Mol Genet Metab. 2011 Jul;103(3):262-7. doi: 10.1016/j.ymgme.2011.03.006. Epub 2011 Mar 11.

PMID:
21478040
11.

Post mortem identification of deoxyguanosine kinase (DGUOK) gene mutations combined with impaired glucose homeostasis and iron overload features in four infants with severe progressive liver failure.

Pronicka E, Węglewska-Jurkiewicz A, Taybert J, Pronicki M, Szymańska-Dębińska T, Karkucińska-Więckowska A, Jakóbkiewicz-Banecka J, Kowalski P, Piekutowska-Abramczuk D, Pajdowska M, Socha P, Sykut-Cegielska J, Węgrzyn G.

J Appl Genet. 2011 Feb;52(1):61-6. doi: 10.1007/s13353-010-0008-y. Epub 2010 Nov 16.

12.

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
13.

Simultaneous detection of mitochondrial DNA depletion and single-exon deletion in the deoxyguanosine gene using array-based comparative genomic hybridisation.

Lee NC, Dimmock D, Hwu WL, Tang LY, Huang WC, Chinault AC, Wong LJ.

Arch Dis Child. 2009 Jan;94(1):55-8. doi: 10.1136/adc.2008.139584.

PMID:
19103789
14.

Abnormal neurological features predict poor survival and should preclude liver transplantation in patients with deoxyguanosine kinase deficiency.

Dimmock DP, Dunn JK, Feigenbaum A, Rupar A, Horvath R, Freisinger P, Mousson de Camaret B, Wong LJ, Scaglia F.

Liver Transpl. 2008 Oct;14(10):1480-5. doi: 10.1002/lt.21556.

15.

Metabolic interrelations within guanine deoxynucleotide pools for mitochondrial and nuclear DNA maintenance.

Leanza L, Ferraro P, Reichard P, Bianchi V.

J Biol Chem. 2008 Jun 13;283(24):16437-45. doi: 10.1074/jbc.M801572200. Epub 2008 Apr 16.

16.

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
17.

Defects in maintenance of mitochondrial DNA are associated with intramitochondrial nucleotide imbalances.

Ashley N, Adams S, Slama A, Zeviani M, Suomalainen A, Andreu AL, Naviaux RK, Poulton J.

Hum Mol Genet. 2007 Jun 15;16(12):1400-11. Epub 2007 May 3.

PMID:
17483096
18.

Kinetic properties of mutant deoxyguanosine kinase in a case of reversible hepatic mtDNA depletion.

Mousson de Camaret B, Taanman JW, Padet S, Chassagne M, Mayençon M, Clerc-Renaud P, Mandon G, Zabot MT, Lachaux A, Bozon D.

Biochem J. 2007 Mar 1;402(2):377-85.

19.

Hepatocerebral mitochondrial DNA depletion syndrome caused by deoxyguanosine kinase (DGUOK) mutations.

Freisinger P, Fütterer N, Lankes E, Gempel K, Berger TM, Spalinger J, Hoerbe A, Schwantes C, Lindner M, Santer R, Burdelski M, Schaefer H, Setzer B, Walker UA, Horváth R.

Arch Neurol. 2006 Aug;63(8):1129-34.

PMID:
16908739
20.

Novel mutation in DGUOK in hepatocerebral mitochondrial DNA depletion syndrome associated with cystathioninuria.

Tadiboyina VT, Rupar A, Atkison P, Feigenbaum A, Kronick J, Wang J, Hegele RA.

Am J Med Genet A. 2005 Jun 15;135(3):289-91.

PMID:
15887277

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