Literature DB >> 6422148

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

K Oyanagi, A Tsuchiyama, Y Itakura, H Sogawa, K Wagatsuma, T Nakao, S Sakamoto, A Yachi.   

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Year:  1983        PMID： 6422148     DOI： 10.1007/bf01800748

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  5 in total

1.  Hyperornithinemia, hyperammonemia, and homocitrullinuria associated with decreased carbamyl phosphate synthetase I activity.

Authors:  P D Gatfield; E Taller; D M Wolfe; M D Haust
Journal:  Pediatr Res       Date:  1975-05       Impact factor: 3.756

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

Authors:  T Wright; R Pollitt
Journal:  Proc R Soc Med       Date:  1973-03

3.  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

4.  Defective ornithine metabolism in cultured skin fibroblasts from patients with the syndrome of hyperornithinemia, hyperammonemia and homocitrullinuria.

Authors:  V E Shih; R Mandell; A Herzfeld
Journal:  Clin Chim Acta       Date:  1982-02-05       Impact factor: 3.786

5.  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
  5 in total
  5 in total

1.  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

2.  Human alpha-L-iduronidase: cDNA isolation and expression.

Authors:  H S Scott; D S Anson; A M Orsborn; P V Nelson; P R Clements; C P Morris; J J Hopwood
Journal:  Proc Natl Acad Sci U S A       Date:  1991-11-01       Impact factor: 11.205

Review 3.  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

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

Review 5.  Single amino acid supplementation in aminoacidopathies: a systematic review.

Authors:  Danique van Vliet; Terry G J Derks; Margreet van Rijn; Martijn J de Groot; Anita MacDonald; M Rebecca Heiner-Fokkema; Francjan J van Spronsen
Journal:  Orphanet J Rare Dis       Date:  2014-01-13       Impact factor: 4.123
  5 in total

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