citrulline and Pigmentary Retinopathy

citrulline has been researched along with Pigmentary Retinopathy in 2 studies

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's2 (100.00)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

Other Studies

2 other study(ies) available for citrulline and Pigmentary Retinopathy

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