| Excerpt | Reference |
|---|
| "Argininemia is caused by a hereditary deficiency of liver-type arginase (E." | ( Aparicio, JM; Haraguchi, Y; Higashikawa, M; Matsuda, I; Mizutani, N; Mori, M; Naitoh, H; Uchino, T, 1992) |
| "A new case of arginase deficiency is reported in a male newborn from Spain." | ( García-Piño, J; Jordá, A; Portolés, M; Rubio, V; Vilas, J, 1986) |
| "Arginase deficiency is an inborn error of the last step in the urea cycle and leads to profound hyperargininemia." | ( Colombo, JP; Konarska, L; von Fellenberg, R; Wiesmann, U, 1983) |
| "Argininemia is an autosomal recessive disorder caused by a deficiency in the liver-type arginase enzyme." | ( Jakobs, C; Lambert, M; Matsuda, I; Qureshi, IA; Sansaricq, C; Shapira, SK; Smit, LM; Snyderman, SE; Uchino, T, 1995) |
| "Hyperargininemia is a metabolic disorder biochemically characterized by tissue accumulation of arginine and other guanidino compounds." | ( Bavaresco, CS; Delwing, D; Hagen, ME; Severo Dutra-Filho, C; Wajner, M; Wannmacher, CM; Wyse, AT, 2001) |
| "Hyperargininemia is a rare autosomal disorder that results from a deficiency in hepatic type I arginase." | ( Ash, DE; Emig, FA; Lavulo, LT, 2002) |
| "Hyperargininemia is an inherited neurometabolic disorder biochemically characterized by tissue accumulation of arginine and clinically by severe neurological symptoms whose pathophysiology is poorly understood." | ( Delwing, D; Dutra-Filho, CS; Wajner, M; Wannmacher, CM; Wyse, AT, 2002) |
| "Hyperargininemia is a metabolic disorder caused by deficiency of arginase activity resulting in tissue accumulation of arginine and neurological dysfunction." | ( Bavaresco, CS; Calcagnotto, T; Delwing, D; Lamers, ML; Tagliari, B; Wajner, M; Wannmacher, CM; Wyse, AT, 2003) |
| "Arginase deficiency is an urea cycle disorder that generally presents with mental retardation and spasticity, yet uncommonly with episodes of hyperammonemia." | ( Boles, RG; Stone, ML, 2006) |
| "Hyperargininemia is a rare inborn error of metabolism due to arginase deficiency, which is inherited in an autossomal recessive manner." | ( Gomes Martins, E; Santos Silva, E; Saudubray, JM; Vilarinho, L; Vilarinho, S, 2010) |
| "Arginase deficiency is characterized by hyperargininemia and infrequent episodes of hyperammonemia." | ( Bhargava, R; Cederbaum, SD; Grody, WW; Hu, C; Lee, EK; Lipshutz, GS; Rozengurt, N; Stout, D, 2012) |
| "Argininemia is an autosomal recessive genetic disorder caused by hepatocyte arginase deficiency." | ( Ding, Y; Li, XY; Liu, YP; Ma, YY; Song, JQ; Wang, Q; Wu, TF; Yang, YL, 2013) |
| "Argininemia is one of the few treatable causes of pediatric spastic paraparesis." | ( Ding, Y; Li, XY; Liu, YP; Ma, YY; Song, JQ; Wang, Q; Wu, TF; Yang, YL, 2013) |
| "Human arginase deficiency is characterized by hyperargininemia and infrequent episodes of hyperammonemia, which lead to neurological impairment with spasticity, loss of ambulation, seizures, and severe mental and growth retardation; uncommonly, patients suffer early death from this disorder." | ( Bhargava, R; Byrne, JA; Cederbaum, SD; De Deyn, PP; Grody, WW; Hu, C; Kasten, J; Lipshutz, GS; Marescau, B; Park, H; Schlichting, L; Tai, D, 2013) |
| "Hyperargininemia is a very rare progressive neurometabolic disorder caused by deficiency of hepatic cytosolic arginase I, resulting from mutations in the ARG1 gene." | ( Abdul Razak, C; Boon Hock, C; Haniffa, M; Hayati, F; Mohd Rawi, R; Mohseni, J; Ngu, LH; Othman, SN; Peitee, WO; Sasongko, TH; Zilfalil, BA, 2014) |
| "Hyperargininemia is caused by deficiency of arginase 1, which catalyzes the hydrolysis of L-arginine to urea as the final enzyme in the urea cycle." | ( Ensenauer, R; Häussinger, D; Mayatepek, E; Schlune, A; Vom Dahl, S, 2015) |
| "Argininemia is a rare disorder of urea cycle defect." | ( Ding, Y; Li, M; Li, X; Liu, Y; Qin, Y; Song, J; Wang, Q; Wu, T; Yang, Y, 2015) |
| "Argininemia is one of the few treatable causes of pediatric spastic paralysis." | ( Ding, Y; Li, M; Li, X; Liu, Y; Qin, Y; Song, J; Wang, Q; Wu, T; Yang, Y, 2015) |
| "Arginase deficiency is caused by deficiency of arginase 1 (ARG1), a urea cycle enzyme that converts arginine to ornithine." | ( Alters, SE; Burrage, LC; Elsea, SH; Frankel, AE; Georgiou, G; Jiang, MM; Johnson, DE; Lee, BH; Nagamani, SC; Rowlinson, SW; Stone, E; Sun, Q, 2015) |
| "Hyperargininemia is currently included as a secondary target on the U." | ( Cederbaum, SD; Currier, R; Grimm, M; Lapidus, D; Therrell, BL, 2017) |
| "Argininemia is an autosomal recessive inherited disorder of the urea cycle." | ( Cai, X; Xie, Y; Yu, D; Zhou, H, 2018) |
| "Arginase deficiency is caused by biallelic mutations in arginase 1 (ARG1), the final step of the urea cycle, and results biochemically in hyperargininemia and the presence of guanidino compounds, while it is clinically notable for developmental delays, spastic diplegia, psychomotor function loss, and (uncommonly) death." | ( Allegri, G; Burke, KE; Cederbaum, SD; Häberle, J; Lipshutz, GS; Liu, XB; Martini, PGV; Truong, B; Zhu, X, 2019) |
| "Hyperargininemia is a urea cycle disorder that has rarely been reported in adults." | ( Amalakanti, S; Daggumati, R; Nagarjunakonda, S, 2020) |
| "Hyperargininemia is an autosomal recessive disorder caused by a defect in the arginase I enzyme." | ( Afrantou, T; Bakirtzis, C; Boziki, MK; Grigoriadis, N; Smyrni, N, 2021) |