phenylalanine has been researched along with Citrullinemia in 2 studies
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 1 (50.00) | 29.6817 |
2010's | 1 (50.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Fu, Q; Gao, H; Jiang, M; Lin, W; Lin, Y; Lu, B; Zheng, T; Zhou, S; Zhu, L | 1 |
Abukawa, D; Aikawa, J; Iinuma, K; Kobayashi, K; Ohura, T; Saheki, T; Sakamoto, O; Tazawa, Y | 1 |
1 review(s) available for phenylalanine and Citrullinemia
Article | Year |
---|---|
Citrullinemia type I is associated with a novel splicing variant, c.773 + 4A > C, in ASS1: a case report and literature review.
Topics: Arginine; Argininosuccinate Synthase; Asian People; Base Sequence; China; Citrulline; Citrullinemia; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Homozygote; Humans; Infant, Newborn; Language Development Disorders; Male; Mutation; Pedigree; Phenotype; Phenylalanine; RNA Splicing | 2019 |
1 other study(ies) available for phenylalanine and Citrullinemia
Article | Year |
---|---|
A novel inborn error of metabolism detected by elevated methionine and/or galactose in newborn screening: neonatal intrahepatic cholestasis caused by citrin deficiency.
Topics: Cholestasis, Intrahepatic; Citrullinemia; Diagnosis, Differential; DNA Mutational Analysis; Galactose; Humans; Infant, Newborn; Mass Screening; Methionine; Neonatal Screening; Phenylalanine; Retrospective Studies | 2003 |