Literature DB >> 23247599

Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome in adulthood: a rare recognizable condition.

Massimiliano Filosto1, Antonella Alberici, Alessandra Tessa, Alessandro Padovani, Filippo M Santorelli.   

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Year:  2012        PMID： 23247599     DOI： 10.1007/s10072-012-1266-8

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  7 in total

Review 1.  Diseases caused by defects of mitochondrial carriers: a review.

Authors:  Ferdinando Palmieri
Journal:  Biochim Biophys Acta       Date:  2008-03-25

2.  Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Authors:  S Salvi; F M Santorelli; E Bertini; R Boldrini; C Meli; A Donati; A B Burlina; C Rizzo; M Di Capua; G Fariello; C Dionisi-Vici
Journal:  Neurology       Date:  2001-09-11       Impact factor: 9.910

3.  Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.

Authors:  J A Camacho; C Obie; B Biery; B K Goodman; C A Hu; S Almashanu; G Steel; R Casey; M Lambert; G A Mitchell; D Valle
Journal:  Nat Genet       Date:  1999-06       Impact factor: 38.330

Review 4.  Current concepts in the pathogenesis of urea cycle disorders.

Authors:  Olivier Braissant
Journal:  Mol Genet Metab       Date:  2010-02-14       Impact factor: 4.797

5.  Long-term follow-up of four patients affected by HHH syndrome.

Authors:  Sook Z Kim; Wung J Song; William L Nyhan; Can Ficicioglu; Roseann Mandell; Vivian E Shih
Journal:  Clin Chim Acta       Date:  2012-03-23       Impact factor: 3.786

6.  Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome with stroke-like imaging presentation: clinical, biochemical and molecular analysis.

Authors:  Zuhair N Al-Hassnan; Mohamed S Rashed; Osama Y Al-Dirbashi; Zoltan Patay; Zuhair Rahbeeni; Khaled K Abu-Amero
Journal:  J Neurol Sci       Date:  2007-09-07       Impact factor: 3.181

Review 7.  Astrocytes: biology and pathology.

Authors:  Michael V Sofroniew; Harry V Vinters
Journal:  Acta Neuropathol       Date:  2009-12-10       Impact factor: 17.088
  7 in total
  4 in total

1.  Ornithine In Vivo Administration Disrupts Redox Homeostasis and Decreases Synaptic Na(+), K (+)-ATPase Activity in Cerebellum of Adolescent Rats: Implications for the Pathogenesis of Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome.

Authors:  Ângela Zanatta; Carolina Maso Viegas; Fernanda Hermes Hickmann; Wagner de Oliveira Monteiro; Angela Sitta; Daniela de Moura Coelho; Carmen Regla Vargas; Guilhian Leipnitz; Moacir Wajner
Journal:  Cell Mol Neurobiol       Date:  2015-03-13       Impact factor: 5.046

Review 2.  The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

Authors:  Diego Martinelli; Daria Diodato; Emanuela Ponzi; Magnus Monné; Sara Boenzi; Enrico Bertini; Giuseppe Fiermonte; Carlo Dionisi-Vici
Journal:  Orphanet J Rare Dis       Date:  2015-03-11       Impact factor: 4.123

3.  Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia.

Authors:  Giorgia Olivieri; Stefano Pro; Daria Diodato; Matteo Di Capua; Daniela Longo; Diego Martinelli; Enrico Bertini; Carlo Dionisi-Vici
Journal:  Orphanet J Rare Dis       Date:  2019-08-23       Impact factor: 4.123

4.  Reversible Leukoencephalopathy in a Man with Childhood-onset Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome.

Authors:  Yumi Hoshino; Minori Kodaira; Atsuhiro Matsuno; Tomoki Kaneko; Tetsuhiro Fukuyama; Kyoko Takano; Masahide Yazaki; Yoshiki Sekijima
Journal:  Intern Med       Date:  2021-08-24       Impact factor: 1.271
  4 in total

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