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24. A new case of arginase deficiency in a Spanish male. Jordá A; Rubio V; Portolés M; Vilas J; García-Piño J J Inherit Metab Dis; 1986; 9(4):393-7. PubMed ID: 3104676 [TBL] [Abstract][Full Text] [Related]
25. Absence of erythrocyte arginase protein in Japanese patients with hyperargininemia. Hayakawa C; Aono S; Keino H; Mizutani N; Watanabe K; Ikemoto M; Totani M; Murachi T; Kashiwamata S Eur J Pediatr; 1991 Sep; 150(11):800-3. PubMed ID: 1959545 [TBL] [Abstract][Full Text] [Related]
26. Ammonia metabolism in a family affected by hyperargininemia. Qureshi IA; Letarte J; Ouellet R; Lelièvre M; Laberge C Diabete Metab; 1981 Mar; 7(1):5-11. PubMed ID: 7238975 [TBL] [Abstract][Full Text] [Related]
27. Three novel mutations in the liver-type arginase gene in three unrelated Japanese patients with argininemia. Uchino T; Haraguchi Y; Aparicio JM; Mizutani N; Higashikawa M; Naitoh H; Mori M; Matsuda I Am J Hum Genet; 1992 Dec; 51(6):1406-12. PubMed ID: 1463019 [TBL] [Abstract][Full Text] [Related]
28. Arginase and free amino acids in hyperargininemia: leukocyte arginine as a diagnostic parameter for heterozygotes. Marescau B; Pintens J; Lowenthal A; Terheggen HG; Adriaenssens K J Clin Chem Clin Biochem; 1979 Apr; 17(4):211-7. PubMed ID: 438730 [TBL] [Abstract][Full Text] [Related]
29. Diagnosis and treatment of argininaemia. Characteristics of arginase in human erythrocytes and tissues. Endres W; Schaller R; Shin YS J Inherit Metab Dis; 1984; 7(1):8. PubMed ID: 6429443 [No Abstract] [Full Text] [Related]
31. A 13-bp deletion (1952 del 13) in the methylmalonyl CoA mutase gene of an affected patient. Touraine RL; Rolland MO; Divry P; Mathieu M; Guibaud P; Bozon D Hum Mutat; 1995; 5(4):354-6. PubMed ID: 7627195 [No Abstract] [Full Text] [Related]
32. Four newly identified ornithine transcarbamylase (OTC) mutations (D126G, R129H, I172M and W332X) in Japanese male patients with early-onset OTC deficiency. Matsuura T; Hoshide R; Kiwaki K; Komaki S; Koike E; Endo F; Oyanagi K; Suzuki Y; Kato I; Ishikawa K Hum Mutat; 1994; 3(4):402-6. PubMed ID: 8081398 [No Abstract] [Full Text] [Related]
33. Arginase deficiency in multiple tissues in argininemia. Michels VV; Beaudet AL Clin Genet; 1978 Jan; 13(1):61-7. PubMed ID: 624188 [TBL] [Abstract][Full Text] [Related]
34. Mutations of the fumarylacetoacetate hydrolase gene in four patients with tyrosinemia, type I. Grompe M; al-Dhalimy M Hum Mutat; 1993; 2(2):85-93. PubMed ID: 8318997 [TBL] [Abstract][Full Text] [Related]
35. Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients. Mikami H; Ogasawara M; Matsubara Y; Kikuchi M; Miyabayashi S; Kure S; Narisawa K J Hum Genet; 1999; 44(1):35-9. PubMed ID: 9929975 [TBL] [Abstract][Full Text] [Related]
36. Molecular genetic study of human arginase deficiency. Grody WW; Klein D; Dodson AE; Kern RM; Wissmann PB; Goodman BK; Bassand P; Marescau B; Kang SS; Leonard JV Am J Hum Genet; 1992 Jun; 50(6):1281-90. PubMed ID: 1598908 [TBL] [Abstract][Full Text] [Related]
37. Isoenzyme pattern and immunological properties of arginase in normal and hyperargininemia fibroblasts. Konarska L; Wiesmann U; von Fellenberg R; Colombo JP Enzyme; 1983; 29(1):44-53. PubMed ID: 6404622 [TBL] [Abstract][Full Text] [Related]
38. [Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria]. Tang H; Hao H; Tang SH; Chen X; Liu F; Cha QB; Li YQ; Li HJ; Sun L; Yu M; Xiao X; Zhou TH Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Feb; 26(1):62-5. PubMed ID: 19199254 [TBL] [Abstract][Full Text] [Related]
39. Self-induced correction of the genetic defect in tyrosinemia type I. Kvittingen EA; Rootwelt H; Berger R; Brandtzaeg P J Clin Invest; 1994 Oct; 94(4):1657-61. PubMed ID: 7929843 [TBL] [Abstract][Full Text] [Related]
40. A simple screening test for arginase deficiency (hyperargininemia). Naylor EW; Orfanos AP; Guthrie R J Lab Clin Med; 1977 Apr; 89(4):876-80. PubMed ID: 845487 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]