178 related articles for article (PubMed ID: 21107780)
1. 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. PubMed ID: 21107780
[TBL] [Abstract][Full Text] [Related]
2. Neonatal liver failure due to deoxyguanosine kinase deficiency.
Nobre S; Grazina M; Silva F; Pinto C; Gonçalves I; Diogo L
BMJ Case Rep; 2012 Apr; 2012():. PubMed ID: 22602837
[TBL] [Abstract][Full Text] [Related]
3. Acute liver failure due to DGUOK deficiency-is liver transplantation justified?
Jankowska I; Czubkowski P; Rokicki D; Lipiński P; Piekutowska-Abramczuk D; Ciara E; Płoski R; Kaliciński P; Szymczak M; Pawłowska J; Socha P
Clin Res Hepatol Gastroenterol; 2021 Jan; 45(1):101408. PubMed ID: 32278775
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 21478040
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 24321534
[TBL] [Abstract][Full Text] [Related]
6. 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. PubMed ID: 16908739
[TBL] [Abstract][Full Text] [Related]
7. Deoxyguanosine kinase deficiency: a report of four patients.
Ünal Ö; Hişmi B; Kılıç M; Gülşen HH; Coşkun T; Sivri SH; Dursun A; Yüce A; Tokatlı A
J Pediatr Endocrinol Metab; 2017 May; 30(6):697-702. PubMed ID: 28493820
[TBL] [Abstract][Full Text] [Related]
8. A novel mutation in the DGUOK gene in a Turkish newborn with mitochondrial depletion syndrome.
Kiliç M; Sivri HS; Dursun A; Tokatli A; De Meirleir L; Seneca S; Akçören Z; Yiğit S; Topaloğlu H; Coşkun T
Turk J Pediatr; 2011; 53(1):79-82. PubMed ID: 21534344
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 19394258
[TBL] [Abstract][Full Text] [Related]
10. The deoxyguanosine kinase gene is mutated in individuals with depleted hepatocerebral mitochondrial DNA.
Mandel H; Szargel R; Labay V; Elpeleg O; Saada A; Shalata A; Anbinder Y; Berkowitz D; Hartman C; Barak M; Eriksson S; Cohen N
Nat Genet; 2001 Nov; 29(3):337-41. PubMed ID: 11687800
[TBL] [Abstract][Full Text] [Related]
11. Case report: Two unexpected cases of DGUOK-related mitochondrial DNA depletion syndrome presenting with hyperinsulinemic hypoglycemia.
Guzman H; Yazdani S; Harmon JL; Chapman KA; Vitola B; Pyle L; McKnight H; Sigal W; Lord K; De Leon DD; Merchant N; Ganetzky R
Front Endocrinol (Lausanne); 2023; 14():1268135. PubMed ID: 38027095
[TBL] [Abstract][Full Text] [Related]
12. The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series.
Doğulu N; Tuna Kırsaçlıoğlu C; Köse E; Ünlüsoy Aksu A; Kuloğlu Z; Kansu A; Eminoğlu FT
J Pediatr Endocrinol Metab; 2021 Oct; 34(10):1341-1347. PubMed ID: 34167177
[TBL] [Abstract][Full Text] [Related]
13. 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; 402(2):377-85. PubMed ID: 17073823
[TBL] [Abstract][Full Text] [Related]
14. Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.
Mancuso M; Filosto M; Tsujino S; Lamperti C; Shanske S; Coquet M; Desnuelle C; DiMauro S
Arch Neurol; 2003 Oct; 60(10):1445-7. PubMed ID: 14568816
[TBL] [Abstract][Full Text] [Related]
15. Mitochondrial DNA depletion and dGK gene mutations.
Salviati L; Sacconi S; Mancuso M; Otaegui D; Camaño P; Marina A; Rabinowitz S; Shiffman R; Thompson K; Wilson CM; Feigenbaum A; Naini AB; Hirano M; Bonilla E; DiMauro S; Vu TH
Ann Neurol; 2002 Sep; 52(3):311-7. PubMed ID: 12205643
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 24423689
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 18205204
[TBL] [Abstract][Full Text] [Related]
18. Molecular insight into mitochondrial DNA depletion syndrome in two patients with novel mutations in the deoxyguanosine kinase and thymidine kinase 2 genes.
Wang L; Limongelli A; Vila MR; Carrara F; Zeviani M; Eriksson S
Mol Genet Metab; 2005 Jan; 84(1):75-82. PubMed ID: 15639197
[TBL] [Abstract][Full Text] [Related]
19. Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency.
Labarthe F; Dobbelaere D; Devisme L; De Muret A; Jardel C; Taanman JW; Gottrand F; Lombès A
J Hepatol; 2005 Aug; 43(2):333-41. PubMed ID: 15964659
[TBL] [Abstract][Full Text] [Related]
20. Deoxyguanosine kinase mutations and combined deficiencies of the mitochondrial respiratory chain in patients with hepatic involvement.
Slama A; Giurgea I; Debrey D; Bridoux D; de Lonlay P; Levy P; Chretien D; Brivet M; Legrand A; Rustin P; Munnich A; Rötig A
Mol Genet Metab; 2005 Dec; 86(4):462-5. PubMed ID: 16263314
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
