메뉴 건너뛰기
Neurological Sciences
Volumn 34, Issue 9, 2013, Pages 1699-1701
Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: A rare recognizable condition
Author keywords

[No Author keywords available]
Indexed keywords

AMMONIA; HOMOCITRULLINE; ORNITHINE;
EID: 84885434394     PISSN: 15901874     EISSN: 15903478     Source Type: Journal    
DOI: 10.1007/s10072-012-1266-8     Document Type: Letter
Times cited : (7)
References (8)
  • 1
    • 84885419612 scopus 로고    scopus 로고
    • Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
    • Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) University of Washington, Seattle (WA); May 31
    • Camacho J, Rioseco-Camacho N (2012) Hyperornithinemia-Hyperammonemia- Homocitrullinuria Syndrome. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) GeneReviews™ [Internet]. University of Washington, Seattle (WA); May 31
    • (2012) GeneReviews™ [Internet]
    • Camacho, J.1    Rioseco-Camacho, N.2
  • 2
    • 0033030998 scopus 로고    scopus 로고
    • Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter
    • 10369256 10.1038/9658 1:CAS:528:DyaK1MXjvVelsb0%3D
    • Camacho JA, Obie C, Biery B (1999) Hyperornithinaemia-hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter. Nat Genet 22:151-158
    • (1999) Nat Genet , vol.22 , pp. 151-158
    • Camacho, J.A.1    Obie, C.2    Biery, B.3
  • 3
    • 77950338275 scopus 로고    scopus 로고
    • Current concepts in the pathogenesis of urea cycle disorders
    • 20227314 10.1016/j.ymgme.2010.02.010 1:CAS:528:DC%2BC3cXks1Shurk%3D
    • Braissant O (2010) Current concepts in the pathogenesis of urea cycle disorders. Mol Genet Metab 100(Suppl 1):S3-S12
    • (2010) Mol Genet Metab , vol.100 , Issue.SUPPL. 1
    • Braissant, O.1
  • 4
    • 77649189116 scopus 로고    scopus 로고
    • Astrocytes: Biology and pathology
    • 20012068 10.1007/s00401-009-0619-8
    • Sofroniew MV, Vinters HV (2010) Astrocytes: biology and pathology. Acta Neuropathol 119:7-35
    • (2010) Acta Neuropathol , vol.119 , pp. 7-35
    • Sofroniew, M.V.1    Vinters, H.V.2
  • 5
    • 46349088952 scopus 로고    scopus 로고
    • Diseases caused by defects of mitochondrial carriers: A review
    • 18406340 10.1016/j.bbabio.2008.03.008 1:CAS:528:DC%2BD1cXnsFCnurY%3D
    • Palmieri F (2008) Diseases caused by defects of mitochondrial carriers: a review. Biochim Biophys Acta 1777:564-578
    • (2008) Biochim Biophys Acta , vol.1777 , pp. 564-578
    • Palmieri, F.1
  • 6
    • 36549033716 scopus 로고    scopus 로고
    • Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: Clinical, biochemical and molecular analysis
    • 17825324 10.1016/j.jns.2007.08.003 1:CAS:528:DC%2BD2sXhsVWjsLzN
    • Al-Hassnan ZN, Rashed MS, Al-Dirbashi OY, Patay Z, Rahbeeni Z, Abu-Amero KK (2008) Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis. J Neurol Sci 264:187-194
    • (2008) J Neurol Sci , vol.264 , pp. 187-194
    • Al-Hassnan, Z.N.1    Rashed, M.S.2    Al-Dirbashi, O.Y.3    Patay, Z.4    Rahbeeni, Z.5    Abu-Amero, K.K.6
  • 7
    • 0035845671 scopus 로고    scopus 로고
    • Clinical and molecular findings in hyperornithinemia-hyperammonemia- homocitrullinuria syndrome
    • 11552031 10.1212/WNL.57.5.911 1:CAS:528:DC%2BD3MXntFGktrk%3D
    • Salvi S, Santorelli FM, Bertini E et al (2001) Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome. Neurology 57:911-914
    • (2001) Neurology , vol.57 , pp. 911-914
    • Salvi, S.1    Santorelli, F.M.2    Bertini, E.3
  • 8
    • 84860385137 scopus 로고    scopus 로고
    • Long-term follow-up of four patients affected by HHH syndrome
    • 22465082 10.1016/j.cca.2012.03.015 1:CAS:528:DC%2BC38XlsFGis7w%3D
    • Kim SZ, Song WJ, Nyhan WL, Ficicioglu C, Mandell R, Shih VE (2012) Long-term follow-up of four patients affected by HHH syndrome. Clin Chim Acta 413:1151-1155
    • (2012) Clin Chim Acta , vol.413 , pp. 1151-1155
    • Kim, S.Z.1    Song, W.J.2    Nyhan, W.L.3    Ficicioglu, C.4    Mandell, R.5    Shih, V.E.6

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.