Literature DB >> 6790865

Defective ornithine metabolism in the syndrome of hyperornithinaemia, hyperammonaemia and homocitrullinuria.

V E Shih, R Mandell, A Herzfeld.   

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Year:  1981        PMID： 6790865     DOI： 10.1007/BF02263608

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


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  5 in total

1.  A microassay for argininosuccinase in cultured cells.

Authors:  L B Jacoby; J W Littlefield; A Milunsky; V E Shih; R S Wilroy
Journal:  Am J Hum Genet       Date:  1972-05       Impact factor: 11.025

2.  [Ornithinemia, additional disorder of amino acid metabolism with brain damage].

Authors:  H Bickel; D Feist; H Müller; G Quadbeck
Journal:  Dtsch Med Wochenschr       Date:  1968-11-22       Impact factor: 0.628

3.  Ornithine-ketoacid transaminase activity in human skin and amniotic fluid cell culture.

Authors:  V E Shih; J D Schulman
Journal:  Clin Chim Acta       Date:  1970-01       Impact factor: 3.786

4.  Letter: Metabolic defect in hyperornithinaemia.

Authors:  V E Shih; R Mandell
Journal:  Lancet       Date:  1974-12-21       Impact factor: 79.321

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
  4 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.  The pH of mitochondria of fibroblasts from a hyperornithinaemia, hyperammonaemia, homocitrullinuria-syndrome patient.

Authors:  K Metoki; F A Hommes
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

3.  Ultrastructural changes in fibroblast mitochondria of a patient with HHH-syndrome.

Authors:  K Metoki; F A Hommes; P Dyken; C Kelloes; J Trefz
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

4.  Heterogeneity and complementation analysis of fibroblasts from vitamin B6 responsive and non-responsive patients with gyrate atrophy of the choroid and retina.

Authors:  M K Wirtz; N G Kennaway; R G Weleber
Journal:  J Inherit Metab Dis       Date:  1985       Impact factor: 4.982
  4 in total

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