Citations for
1HHH, SLC25A15
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 30(5):741-8. 2009
2HHH, SLC25A15
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 45(11):759-64. 2008
3HHH, SLC25A15
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 264(1-2):187-94. Epub 2007 Sep 7. 2008
4HHH, SLC25A15
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 60(4):423-9. Epub 2006 Aug 28. 2006
5SLC25A15, HHH
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 28(5):332-5. Epub 2006 Jan 10. 2006
6HHH, SLC25A15
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 218(1-2):53-8. 2004
7HHH, SLC25A15, SLC25A2
Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, a urea cycle disorder.
Camacho JA, Rioseco-Camacho N, Andrade D, Porter J, Kong J.
Mol Genet Metab 79(4):257-71. 2003
8HHH, SLC25A15
Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.
Miyamoto T, Kanazawa N, Kato S, Kawakami M, Inoue Y, Kuhara T, Inoue T, Takeshita K, Tsujino S.
J Hum Genet 46(5):260-2. 2001
9HHH, SLC25A15
Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
Tsujino S, Kanazawa N, Ohashi T, Eto Y, Saito T, Kira J, Yamada T.
Ann Neurol 47(5):625-31. 2000
10HHH, SLC25A15
Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.
Camacho JA, et al.
Nat Genet 22(2):151-8. 1999