232 related articles for article (PubMed ID: 18376250)
1. Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome (HHH) presenting with acute fulminant hepatic failure.
Mhanni AA; Chan A; Collison M; Seifert B; Lehotay DC; Sokoro A; Huynh HQ; Greenberg CR
J Pediatr Gastroenterol Nutr; 2008 Mar; 46(3):312-5. PubMed ID: 18376250
[TBL] [Abstract][Full Text] [Related]
2. Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.
Debray FG; Lambert M; Lemieux B; Soucy JF; Drouin R; Fenyves D; Dubé J; Maranda B; Laframboise R; Mitchell GA
J Med Genet; 2008 Nov; 45(11):759-64. PubMed ID: 18978333
[TBL] [Abstract][Full Text] [Related]
3. HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis-like presentation.
Fecarotta S; Parenti G; Vajro P; Zuppaldi A; Della Casa R; Carbone MT; Correra A; Torre G; Riva S; Dionisi-Vici C; Santorelli FM; Andria G
J Inherit Metab Dis; 2006 Feb; 29(1):186-9. PubMed ID: 16601889
[TBL] [Abstract][Full Text] [Related]
4. Retinal degeneration.
Morini C; Capozzi P; Boenzi S; Rizzo C; Santorelli FM; Dionisi-Vici C
Ophthalmology; 2009 Aug; 116(8):1593, 1593.e1. PubMed ID: 19651321
[No Abstract] [Full Text] [Related]
5. Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.
Al-Hassnan ZN; Rashed MS; Al-Dirbashi OY; Patay Z; Rahbeeni Z; Abu-Amero KK
J Neurol Sci; 2008 Jan; 264(1-2):187-94. PubMed ID: 17825324
[TBL] [Abstract][Full Text] [Related]
6. Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.
Korman SH; Kanazawa N; Abu-Libdeh B; Gutman A; Tsujino S
J Neurol Sci; 2004 Mar; 218(1-2):53-8. PubMed ID: 14759633
[TBL] [Abstract][Full Text] [Related]
7. Seven novel mutations in the ORNT1 gene (SLC25A15) in patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Salvi S; Dionisi-Vici C; Bertini E; Verardo M; Santorelli FM
Hum Mutat; 2001 Nov; 18(5):460. PubMed ID: 11668643
[TBL] [Abstract][Full Text] [Related]
8. A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome.
Torisu H; Kira R; Kanazawa N; Takemoto M; Sanefuji M; Sakai Y; Tsujino S; Hara T
Brain Dev; 2006 Jun; 28(5):332-5. PubMed ID: 16376511
[TBL] [Abstract][Full Text] [Related]
9. Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
Tessa A; Fiermonte G; Dionisi-Vici C; Paradies E; Baumgartner MR; Chien YH; Loguercio C; de Baulny HO; Nassogne MC; Schiff M; Deodato F; Parenti G; Rutledge SL; Vilaseca MA; Melone MA; Scarano G; Aldamiz-Echevarría L; Besley G; Walter J; Martinez-Hernandez E; Hernandez JM; Pierri CL; Palmieri F; Santorelli FM
Hum Mutat; 2009 May; 30(5):741-8. PubMed ID: 19242930
[TBL] [Abstract][Full Text] [Related]
10. Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria).
Hommes FA; Roesel RA; Metoki K; Hartlage PL; Dyken PR
Neuropediatrics; 1986 Feb; 17(1):48-52. PubMed ID: 3960284
[TBL] [Abstract][Full Text] [Related]
11. The hyperornithinemia, hyperammonemia, homocitrullinuria syndrome: an ornithine transport defect remediable with ornithine supplements.
Gordon BA; Gatfield DP; Haust MD
Clin Invest Med; 1987 Jul; 10(4):329-36. PubMed ID: 3652557
[TBL] [Abstract][Full Text] [Related]
12. HHH syndrome associated with callosal agenesis and disordered neuronal migration.
Gallagher AC; Pike M; Standing S
Dev Med Child Neurol; 2001 Jun; 43(6):430-1. PubMed ID: 11409836
[No Abstract] [Full Text] [Related]
13. The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D; Diodato D; Ponzi E; Monné M; Boenzi S; Bertini E; Fiermonte G; Dionisi-Vici C
Orphanet J Rare Dis; 2015 Mar; 10():29. PubMed ID: 25874378
[TBL] [Abstract][Full Text] [Related]
14. Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: low creatine excretion and effect of citrulline, arginine, or ornithine supplement.
Dionisi Vici C; Bachmann C; Gambarara M; Colombo JP; Sabetta G
Pediatr Res; 1987 Sep; 22(3):364-7. PubMed ID: 3116497
[TBL] [Abstract][Full Text] [Related]
15. Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.
Camacho JA; Obie C; Biery B; Goodman BK; Hu CA; Almashanu S; Steel G; Casey R; Lambert M; Mitchell GA; Valle D
Nat Genet; 1999 Jun; 22(2):151-8. PubMed ID: 10369256
[TBL] [Abstract][Full Text] [Related]
16. [Molecular genetic studies of mitochondrial ornithine transporter deficiency (HHH syndrome)].
Tsujino S; Miyamoto T; Kanazawa N
Nihon Rinsho; 2001 Nov; 59(11):2278-84. PubMed ID: 11712419
[TBL] [Abstract][Full Text] [Related]
17. Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
Camacho JA; Mardach R; Rioseco-Camacho N; Ruiz-Pesini E; Derbeneva O; Andrade D; Zaldivar F; Qu Y; Cederbaum SD
Pediatr Res; 2006 Oct; 60(4):423-9. PubMed ID: 16940241
[TBL] [Abstract][Full Text] [Related]
18. [Anesthesia for a patient with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome].
Noguchi R; Tomita Y; Hashiba M; Shimoji K
Masui; 1988 Jan; 37(1):86-92. PubMed ID: 3367506
[No Abstract] [Full Text] [Related]
19. The human and mouse SLC25A29 mitochondrial transporters rescue the deficient ornithine metabolism in fibroblasts of patients with the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
Camacho JA; Rioseco-Camacho N
Pediatr Res; 2009 Jul; 66(1):35-41. PubMed ID: 19287344
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]
