citrulline has been researched along with Pigmentary Retinopathy in 2 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 2 (100.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Bardet, J; Diry, C; Heron, B; Kamoun, P; Marsac, C; Munnich, A; Parvy, P; Ponsot, G; Rabier, D; Rotig, A; Rustin, P; Saudubray, JM | 1 |
Chrétien, D; Cormier-Daire, V; de Lonlay, P; Munnich, A; Parfait, B; Rabier, D; Rötig, A; Rustin, P; Saudubray, JM; von Kleist-Retzow, JC | 1 |
2 other study(ies) available for citrulline and Pigmentary Retinopathy
Article | Year |
---|---|
Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?
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.
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 |