Literature DB >> 5782534

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

V E Shih, M L Efron, H W Moser.   

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Year:  1969        PMID: 5782534

Source DB:  PubMed          Journal:  Am J Dis Child        ISSN: 0002-922X


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  25 in total

1.  A new patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria treated early with low protein diet.

Authors:  L R Gjessing; H A Lunde; T Undrum; H Broch; A Alme; S O Lie
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

2.  Genetic aspects in gyrate atrophy of the choroid and retina with hyperornithinaemia.

Authors:  K Takki; O Simell
Journal:  Br J Ophthalmol       Date:  1974-11       Impact factor: 4.638

3.  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

4.  Disorders of amino acid metabolism--1971.

Authors:  J H Menkes
Journal:  Calif Med       Date:  1971-10

5.  Abnormality of citrulline synthesis in liver mitochondria from patients with hyperornithinaemia, hyperammonaemia and homocitrullinuria.

Authors:  I Inoue; M Koura; T Saheki; K Kayanuma; M Uono; M Nakajima; K Takeshita; R Koike; T Yuasa; T Miyatake
Journal:  J Inherit Metab Dis       Date:  1987       Impact factor: 4.982

6.  Liver pathology in transient neonatal hyperammonemia.

Authors:  A Zimmermann; C Bachmann; I Högger; J Gehler; A Mielfried; E Mönch; H Peters
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1983

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

Authors:  V E Shih; R Mandell; A Herzfeld
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

8.  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

9.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

10.  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

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