1 | HHH, SLC25A15
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| Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.
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| 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.
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| Hum Mutat 30(5):741-8.
2009
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2 | HHH, SLC25A15
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| Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.
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| Debray FG, Lambert M, Lemieux B, Soucy JF, Drouin R, Fenyves D, Dubé J, Maranda B, Laframboise R, Mitchell GA.
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| J Med Genet 45(11):759-64.
2008
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3 | HHH, SLC25A15
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| Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.
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| Al-Hassnan ZN, Rashed MS, Al-Dirbashi OY, Patay Z, Rahbeeni Z, Abu-Amero KK.
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| J Neurol Sci 264(1-2):187-94. Epub 2007 Sep 7.
2008
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4 | HHH, SLC25A15
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| Clinical and functional characterization of a human ORNT1 mutation (T32R) in the hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome.
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| Camacho JA, Mardach R, Rioseco-Camacho N, Ruiz-Pesini E, Derbeneva O, Andrade D, Zaldivar F, Qu Y, Cederbaum SD.
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| Pediatr Res 60(4):423-9. Epub 2006 Aug 28. 2006
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5 | SLC25A15, HHH
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| A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome.
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| Torisu H, Kira R, Kanazawa N, Takemoto M, Sanefuji M, Sakai Y, Tsujino S, Hara T.
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| Brain Dev 28(5):332-5. Epub 2006 Jan 10. 2006
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6 | HHH, SLC25A15
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| Hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome with evidence of mitochondrial dysfunction due to a novel SLC25A15 (ORNT1) gene mutation in a Palestinian family.
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| Korman SH, Kanazawa N, Abu-Libdeh B, Gutman A, Tsujino S.
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| J Neurol Sci 218(1-2):53-8.
2004
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7 | HHH, SLC25A15, SLC25A2
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| 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.
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| Camacho JA, Rioseco-Camacho N, Andrade D, Porter J, Kong J.
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| Mol Genet Metab 79(4):257-71. 2003
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8 | HHH, SLC25A15
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| Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.
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| Miyamoto T, Kanazawa N, Kato S, Kawakami M, Inoue Y, Kuhara T, Inoue T, Takeshita K, Tsujino S.
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| J Hum Genet 46(5):260-2. 2001
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9 | HHH, SLC25A15
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| Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
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| Tsujino S, Kanazawa N, Ohashi T, Eto Y, Saito T, Kira J, Yamada T.
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| Ann Neurol 47(5):625-31. 2000
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10 | HHH, SLC25A15
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| Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.
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| Camacho JA, et al.
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| Nat Genet 22(2):151-8. 1999
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