citrulline and Ataxia

citrulline has been researched along with Ataxia in 5 studies

Research

Studies (5)

TimeframeStudies, this research(%)All Research%
pre-19903 (60.00)18.7374
1990's2 (40.00)18.2507
2000's0 (0.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Bardet, J; Diry, C; Heron, B; Kamoun, P; Marsac, C; Munnich, A; Parvy, P; Ponsot, G; Rabier, D; Rotig, A; Rustin, P; Saudubray, JM1
Chrétien, D; Cormier-Daire, V; de Lonlay, P; Munnich, A; Parfait, B; Rabier, D; Rötig, A; Rustin, P; Saudubray, JM; von Kleist-Retzow, JC1
Brenton, DP; Cusworth, DC; Hartley, S; Kuzemko, JA; Lumley, S1
Pollitt, R; Wright, T1
Efron, ML; Moser, HW; Shih, VE1

Other Studies

5 other study(ies) available for citrulline and Ataxia

ArticleYear
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
    Journal of inherited metabolic disease, 1998, Volume: 21, Issue:3

    Topics: Abnormalities, Multiple; Ataxia; Biomarkers; Child, Preschool; Citrulline; DNA, Mitochondrial; Female; Glycine; Humans; Infant; Male; Muscular Diseases; Mutation; Retinitis Pigmentosa; Threonine

1998
The neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome mtDNA mutation (T8993G) triggers muscle ATPase deficiency and hypocitrullinaemia.
    European journal of pediatrics, 1999, Volume: 158, Issue:1

    Topics: Adenosine Triphosphatases; Ataxia; Citrulline; DNA, Mitochondrial; Female; Humans; Infant; Infant, Newborn; Intestine, Small; Male; Metabolism, Inborn Errors; Muscle Weakness; Mutation; Oxidative Phosphorylation; Pedigree; Retinitis Pigmentosa; Syndrome

1999
Argininosuccinicaciduria: clinical, metabolic and dietary study.
    Journal of mental deficiency research, 1974, Volume: 18, Issue:0

    Topics: Affective Symptoms; Amino Acid Metabolism, Inborn Errors; Ammonia; Arginase; Arginine; Ataxia; Child; Citrulline; Dietary Proteins; Electroencephalography; Epilepsy; Female; Humans; Intellectual Disability; Intelligence Tests; Male; Ornithine; Phenobarbital; Seizures; Succinates; Tremor

1974
Psychomotor retardation, epileptic and stuporous attacks, irritability and ataxia associated with ammonia intoxication, high blood ornithine levels and increased homocitruline in the urine.
    Proceedings of the Royal Society of Medicine, 1973, Volume: 66, Issue:3

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Ammonia; Ataxia; Citrulline; Epilepsy; Female; Humans; Ornithine; Paralysis; Psychomotor Disorders

1973
Hyperornithinemia, hyperammonemia, and homocitrullinuria. A new disorder of amino acid metabolism associated with myoclonic seizures and mental retardation.
    American journal of diseases of children (1960), 1969, Volume: 117, Issue:1

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Ammonia; Ataxia; Child, Preschool; Citrulline; Diet Therapy; Humans; Intellectual Disability; Lysine; Male; Myoclonus; Ornithine; Ornithine Carbamoyltransferase; Seizures

1969