124 related articles for article (PubMed ID: 24894789)
1. A novel MPV17 gene mutation in a Saudi infant causing fatal progressive liver failure.
Sarkhy AA; Al-Sunaid A; Abdullah A; AlFadhel M; Eiyad W
Ann Saudi Med; 2014; 34(2):175-8. PubMed ID: 24894789
[TBL] [Abstract][Full Text] [Related]
2. Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
Spinazzola A; Santer R; Akman OH; Tsiakas K; Schaefer H; Ding X; Karadimas CL; Shanske S; Ganesh J; Di Mauro S; Zeviani M
Arch Neurol; 2008 Aug; 65(8):1108-13. PubMed ID: 18695062
[TBL] [Abstract][Full Text] [Related]
3. Hepatocerebral form of mitochondrial DNA depletion syndrome due to mutation in MPV17 gene.
AlSaman A; Tomoum H; Invernizzi F; Zeviani M
Saudi J Gastroenterol; 2012; 18(4):285-9. PubMed ID: 22824774
[TBL] [Abstract][Full Text] [Related]
4. Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.
Navarro-Sastre A; Martín-Hernández E; Campos Y; Quintana E; Medina E; de Las Heras RS; Lluch M; Muñoz A; del Hoyo P; Martín R; Gort L; Briones P; Ribes A
Mol Genet Metab; 2008 Jun; 94(2):234-9. PubMed ID: 18329934
[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. MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.
El-Hattab AW; Wang J; Dai H; Almannai M; Staufner C; Alfadhel M; Gambello MJ; Prasun P; Raza S; Lyons HJ; Afqi M; Saleh MAM; Faqeih EA; Alzaidan HI; Alshenqiti A; Flore LA; Hertecant J; Sacharow S; Barbouth DS; Murayama K; Shah AA; Lin HC; Wong LC
Hum Mutat; 2018 Apr; 39(4):461-470. PubMed ID: 29282788
[TBL] [Abstract][Full Text] [Related]
7. MPV17 mutations in juvenile- and adult-onset axonal sensorimotor polyneuropathy.
Baumann M; Schreiber H; Schlotter-Weigel B; Löscher WN; Stucka R; Karall D; Strom TM; Bauer P; Krabichler B; Fauth C; Glaeser D; Senderek J
Clin Genet; 2019 Jan; 95(1):182-186. PubMed ID: 30298599
[TBL] [Abstract][Full Text] [Related]
8. MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.
El-Hattab AW; Li FY; Schmitt E; Zhang S; Craigen WJ; Wong LJ
Mol Genet Metab; 2010 Mar; 99(3):300-8. PubMed ID: 20074988
[TBL] [Abstract][Full Text] [Related]
9. MPV17 mutation-related mitochondrial DNA depletion syndrome: A case series in infants.
Samanta A; Srivastava A; Mandal K; Sarma MS; Poddar U
Indian J Gastroenterol; 2023 Aug; 42(4):569-574. PubMed ID: 36753038
[TBL] [Abstract][Full Text] [Related]
10. Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.
Vilarinho S; Choi M; Jain D; Malhotra A; Kulkarni S; Pashankar D; Phatak U; Patel M; Bale A; Mane S; Lifton RP; Mistry PK
J Hepatol; 2014 Nov; 61(5):1056-63. PubMed ID: 25016221
[TBL] [Abstract][Full Text] [Related]
11. Novel c.191C>G (p.Pro64Arg) MPV17 mutation identified in two pairs of unrelated Polish siblings with mitochondrial hepatoencephalopathy.
Piekutowska-Abramczuk D; Pronicki M; Strawa K; Karkucińska-Więckowska A; Szymańska-Dębińska T; Fidziańska A; Więckowski MR; Jurkiewicz D; Ciara E; Jankowska I; Sykut-Cegielska J; Krajewska-Walasek M; Płoski R; Pronicka E
Clin Genet; 2014 Jun; 85(6):573-7. PubMed ID: 23829229
[TBL] [Abstract][Full Text] [Related]
12. Functional splicing assay supporting that c.70 + 5G > A mutation in the MPV17 gene is disease causing.
Navarro-Sastre A; García-Silva MT; Martín-Hernández E; Lluch M; Briones P; Ribes A
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3():S293-6. PubMed ID: 20614188
[TBL] [Abstract][Full Text] [Related]
13. MPV17 hepatocerebral mitochondrial DNA depletion syndrome presenting as acute flaccid paralysis - A case report.
Pyal A; Paramasivam A; Meena AK; Bhavana VB; Thangaraj K
Mitochondrion; 2017 Nov; 37():41-45. PubMed ID: 28673863
[TBL] [Abstract][Full Text] [Related]
14. Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
Wong LJ; Brunetti-Pierri N; Zhang Q; Yazigi N; Bove KE; Dahms BB; Puchowicz MA; Gonzalez-Gomez I; Schmitt ES; Truong CK; Hoppel CL; Chou PC; Wang J; Baldwin EE; Adams D; Leslie N; Boles RG; Kerr DS; Craigen WJ
Hepatology; 2007 Oct; 46(4):1218-27. PubMed ID: 17694548
[TBL] [Abstract][Full Text] [Related]
15. Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients.
Parini R; Furlan F; Notarangelo L; Spinazzola A; Uziel G; Strisciuglio P; Concolino D; Corbetta C; Nebbia G; Menni F; Rossi G; Maggioni M; Zeviani M
J Hepatol; 2009 Jan; 50(1):215-21. PubMed ID: 19012992
[TBL] [Abstract][Full Text] [Related]
16. The zebrafish orthologue of the human hepatocerebral disease gene
Martorano L; Peron M; Laquatra C; Lidron E; Facchinello N; Meneghetti G; Tiso N; Rasola A; Ghezzi D; Argenton F
Dis Model Mech; 2019 Mar; 12(3):. PubMed ID: 30833296
[TBL] [Abstract][Full Text] [Related]
17. AAV-mediated liver-specific MPV17 expression restores mtDNA levels and prevents diet-induced liver failure.
Bottani E; Giordano C; Civiletto G; Di Meo I; Auricchio A; Ciusani E; Marchet S; Lamperti C; d'Amati G; Viscomi C; Zeviani M
Mol Ther; 2014 Jan; 22(1):10-7. PubMed ID: 24247928
[TBL] [Abstract][Full Text] [Related]
18. A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.
Choi YR; Hong YB; Jung SC; Lee JH; Kim YJ; Park HJ; Lee J; Koo H; Lee JS; Jwa DH; Jung N; Woo SY; Kim SB; Chung KW; Choi BO
BMC Neurol; 2015 Oct; 15():179. PubMed ID: 26437932
[TBL] [Abstract][Full Text] [Related]
19. MPV17: fatal hepatocerebral presentation in a Brazilian infant.
Nogueira C; de Souza CF; Husny A; Derks TG; Santorelli FM; Vilarinho L
Mol Genet Metab; 2012 Dec; 107(4):764. PubMed ID: 23137571
[No Abstract] [Full Text] [Related]
20.
Hong KT; Lim BC; Moon JS; Ko JS
Korean J Gastroenterol; 2021 May; 77(5):248-252. PubMed ID: 34035203
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
