184 related articles for article (PubMed ID: 24473688)
21. Insights into the mutation-induced HHH syndrome from modeling human mitochondrial ornithine transporter-1.
Wang JF; Chou KC
PLoS One; 2012; 7(1):e31048. PubMed ID: 22292090
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. Primary hyperammonaemia: Current diagnostic and therapeutic strategies.
Häberle J
J Mother Child; 2020 Oct; 24(2):32-38. PubMed ID: 33179600
[TBL] [Abstract][Full Text] [Related]
24. Ocular manifestations in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: a rare association.
Kumar K; Agarwal A; Agarwal A; Dhawan A; Chandani N; Raj P
Retin Cases Brief Rep; 2015; 9(2):134-7. PubMed ID: 25411929
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis.
Shih VE; Laframboise R; Mandell R; Pichette J
Prenat Diagn; 1992 Sep; 12(9):717-23. PubMed ID: 1438066
[No Abstract] [Full Text] [Related]
27. A novel mutation in the SLC25A15 gene in a Turkish patient with HHH syndrome: functional analysis of the mutant protein.
Ersoy Tunalı N; Marobbio CM; Tiryakioğlu NO; Punzi G; Saygılı SK; Onal H; Palmieri F
Mol Genet Metab; 2014 May; 112(1):25-9. PubMed ID: 24721342
[TBL] [Abstract][Full Text] [Related]
28. Successful liver transplantation in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome: Case report.
De Bruyne P; Verloo P; Van Hove JLK; de Hemptinne B; Vande Velde S; Van Winckel M; Van Biervliet S; De Bruyne R
Pediatr Transplant; 2021 Sep; 25(6):e13943. PubMed ID: 33314525
[TBL] [Abstract][Full Text] [Related]
29. Ornithine aminotransferase deficiency: diagnostic difficulties in neonatal presentation.
Cleary MA; Dorland L; de Koning TJ; Poll-The BT; Duran M; Mandell R; Shih VE; Berger R; Olpin SE; Besley GT
J Inherit Metab Dis; 2005; 28(5):673-9. PubMed ID: 16151897
[TBL] [Abstract][Full Text] [Related]
30. Pathogenic potential of SLC25A15 mutations assessed by transport assays and complementation of Saccharomyces cerevisiae ORT1 null mutant.
Marobbio CM; Punzi G; Pierri CL; Palmieri L; Calvello R; Panaro MA; Palmieri F
Mol Genet Metab; 2015 May; 115(1):27-32. PubMed ID: 25818551
[TBL] [Abstract][Full Text] [Related]
31. A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria.
Rodes M; Ribes A; Pineda M; Alvarez L; Fabregas I; Fernandez Alvarez E; Coude FX; Grimber G
J Inherit Metab Dis; 1987; 10(1):73-81. PubMed ID: 3106719
[TBL] [Abstract][Full Text] [Related]
32. Urea cycle disorders in India: clinical course, biochemical and genetic investigations, and prenatal testing.
Bijarnia-Mahay S; Häberle J; Jalan AB; Puri RD; Kohli S; Kudalkar K; Rüfenacht V; Gupta D; Maurya D; Verma J; Shigematsu Y; Yamaguchi S; Saxena R; Verma IC
Orphanet J Rare Dis; 2018 Oct; 13(1):174. PubMed ID: 30285816
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Challenges in diagnosing and managing adult patients with urea cycle disorders.
Stepien KM; Geberhiwot T; Hendriksz CJ; Treacy EP
J Inherit Metab Dis; 2019 Nov; 42(6):1136-1146. PubMed ID: 30932189
[TBL] [Abstract][Full Text] [Related]
35. Urea cycle disorders.
Leonard JV; Morris AA
Semin Neonatol; 2002 Feb; 7(1):27-35. PubMed ID: 12069536
[TBL] [Abstract][Full Text] [Related]
36. Prenatal exclusion of the HHH syndrome.
Gray RG; Green A; Hall S; McKeown C
Prenat Diagn; 1995 May; 15(5):474-6. PubMed ID: 7644438
[TBL] [Abstract][Full Text] [Related]
37. The urea cycle disorders.
Helman G; Pacheco-Colón I; Gropman AL
Semin Neurol; 2014 Jul; 34(3):341-9. PubMed ID: 25192511
[TBL] [Abstract][Full Text] [Related]
38. Severe hyperammonaemia in adults not explained by liver disease.
Walker V
Ann Clin Biochem; 2012 May; 49(Pt 3):214-28. PubMed ID: 22349554
[TBL] [Abstract][Full Text] [Related]
39. Feasibility of adjunct therapeutic hypothermia treatment for hyperammonemia and encephalopathy due to urea cycle disorders and organic acidemias.
Lichter-Konecki U; Nadkarni V; Moudgil A; Cook N; Poeschl J; Meyer MT; Dimmock D; Baumgart S
Mol Genet Metab; 2013 Aug; 109(4):354-9. PubMed ID: 23791307
[TBL] [Abstract][Full Text] [Related]
40. A new patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria treated early with low protein diet.
Gjessing LR; Lunde HA; Undrum T; Broch H; Alme A; Lie SO
J Inherit Metab Dis; 1986; 9(2):186-92. PubMed ID: 3091924
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
