Literature DB >> 4697977

Psychomotor retardation, epileptic and stuporous attacks, irritability and ataxia associated with ammonia intoxication, high blood ornithine levels and increased homocitruline in the urine.

T Wright, R Pollitt.   

Abstract

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Year:  1973        PMID： 4697977      PMCID： PMC1644839     

Source DB:  PubMed          Journal:  Proc R Soc Med        ISSN： 0035-9157


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  1 in total

1.  Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation.

Authors:  V E Shih; M L Efron; H W Moser
Journal:  Am J Dis Child       Date:  1969-01
  1 in total
  5 in total

1.  The mechanism of hyperammonaemia and hyperornithinaemia in the syndrome of hyperornithinaemia, hyperammonaemia with homocitrullinuria.

Authors:  K Oyanagi; A Tsuchiyama; Y Itakura; H Sogawa; K Wagatsuma; T Nakao; S Sakamoto; A Yachi
Journal:  J Inherit Metab Dis       Date:  1983       Impact factor: 4.982

2.  Comparison of ornithine metabolism in hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome, lysinuric protein intolerance and gyrate atrophy fibroblasts.

Authors:  J Botschner; D W Smith; O Simell; C R Scriver
Journal:  J Inherit Metab Dis       Date:  1989       Impact factor: 4.982

3.  A new family affected by the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria.

Authors:  M Rodes; A Ribes; M Pineda; L Alvarez; I Fabregas; E Fernandez Alvarez; F X Coude; G Grimber
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

4.  Decreased transport of ornithine across the inner mitochondrial membrane as a cause of hyperornithinaemia.

Authors:  F A Hommes; C K Ho; R A Roesel; M E Coryell; B A Gordon
Journal:  J Inherit Metab Dis       Date:  1982       Impact factor: 4.982

Review 5.  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
  5 in total

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