93 related articles for article (PubMed ID: 6442743)
21. Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant.
MacLeod P; Mackenzie S; Scriver CR
Can Med Assoc J; 1972 Sep; 107(5):405-8. PubMed ID: 5074751
[TBL] [Abstract][Full Text] [Related]
22. Enzyme studies on a new case of ornithine carbamoyl transferase deficiency: remaining problems and a method of diagnosis based on plasma enzyme ratios.
Pollitt RJ; Black JA; Gray RG; Lyons VH
Ann Clin Biochem; 1977 May; 14(3):139. PubMed ID: 17346
[No Abstract] [Full Text] [Related]
23. Serum activity of ornithine carbamoyl transferase in patients operated with jejunoileal bypass for extreme obesity after pretreatment with aminoacids.
Gillquist J; Lundström B
Acta Chir Scand; 1979; 145(8):501-3. PubMed ID: 539335
[TBL] [Abstract][Full Text] [Related]
24. Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiency.
Luksan O; Jirsa M; Eberova J; Minks J; Treslova H; Bouckova M; Storkanova G; Vlaskova H; Hrebicek M; Dvorakova L
Hum Mutat; 2010 Apr; 31(4):E1294-303. PubMed ID: 20127982
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Ornithine carbamoyltransferase deficiency. A new variant with subnormal enzyme activity.
Rabier D; Benoit A; Petit F; Chekoury A; Bonnefont JP; Saudubray JM; Kamoun P
Clin Chim Acta; 1989 Dec; 186(1):25-9. PubMed ID: 2612006
[TBL] [Abstract][Full Text] [Related]
27. Mutation analysis of the ornithine transcarbamylase (OTC) gene in five Japanese OTC deficiency patients revealed two known and three novel mutations including a deep intronic mutation.
Ogino W; Takeshima Y; Nishiyama A; Okizuka Y; Yagi M; Tsuneishi S; Saiki K; Kugo M; Matsuo M
Kobe J Med Sci; 2007; 53(5):229-40. PubMed ID: 18204299
[TBL] [Abstract][Full Text] [Related]
28. A sensitive ELISA for serum ornithine carbamoyltransferase utilizing the enhancement of immunoreactivity at alkaline pH.
Murayama H; Igarashi M; Mori M; Fukuda Y; Ikemoto M; Nagata A
Clin Chim Acta; 2006 Jun; 368(1-2):125-30. PubMed ID: 16445902
[TBL] [Abstract][Full Text] [Related]
29. Study of enzyme defect in a case of ornithine transcarbamylase deficiency.
Qureshi IA; Letarte J; Quellet R
Diabete Metab; 1978 Dec; 4(4):239-41. PubMed ID: 729890
[TBL] [Abstract][Full Text] [Related]
30. Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: clinical, biochemical and DNA analyses in a four-generation family.
Ausems MG; Bakker E; Berger R; Duran M; van Diggelen OP; Keulemans JL; de Valk HW; Kneppers AL; Dorland L; Eskes PF; Beemer FA; Poll-The BT; Smeitink JA
Am J Med Genet; 1997 Jan; 68(2):236-9. PubMed ID: 9028466
[TBL] [Abstract][Full Text] [Related]
31. Liver reaction as manifested in increased activity of ornithine carbamoyl transferase in serum (S-OCT) after operation in the dog.
Brohult J; Gillquist J; Reichard H; Thulin L
Acta Chir Scand; 1969; 135(5):429-32. PubMed ID: 5354195
[No Abstract] [Full Text] [Related]
32. Ornithine carbamoyltransferase deficiency in an adult male patient: significance of hepatic ultrastructure in clinical diagnosis.
Tallan HH; Schaffner F; Taffet SL; Schneidman K; Gaull GE
Pediatrics; 1983 Feb; 71(2):224-32. PubMed ID: 6823424
[TBL] [Abstract][Full Text] [Related]
33. [A new family with mutation of the structural gene of human ornithine carbamoyltransferase].
Stoll C; Bieth R; Dreyfus J; Flori E; Lutz P; Levy JM
Arch Fr Pediatr; 1978 May; 35(5):512-8. PubMed ID: 678030
[TBL] [Abstract][Full Text] [Related]
34. [Ornithine transcarbamylase deficiency. Biochemical studies in the diagnosis of 4 cases and the identification of carriers].
Briones Godino P; Vilaseca Busca MA; Alvarez Dominguez L; Rodes Monegal M; Campistol Plana J
An Esp Pediatr; 1991 May; 34(5):360-4. PubMed ID: 1883110
[TBL] [Abstract][Full Text] [Related]
35. [Gene therapy for ornithine transcarbamylase deficiency].
Matsuda I; Kiwaki K; Komaki S; Hoshide R; Matsuura T; Endo F
Tanpakushitsu Kakusan Koso; 1995 Dec; 40(17):2759-64. PubMed ID: 8584733
[No Abstract] [Full Text] [Related]
36. Clinical and biochemical heterogeneity in females of a large pedigree with ornithine transcarbamylase deficiency due to the R141Q mutation.
Ahrens MJ; Berry SA; Whitley CB; Markowitz DJ; Plante RJ; Tuchman M
Am J Med Genet; 1996 Dec; 66(3):311-5. PubMed ID: 8985493
[TBL] [Abstract][Full Text] [Related]
37. A simple approach to to predict residual liver ornithine carbamoyltransferase (OCT) activity from serum enzyme ratios.
van der Heiden C; Desplanque J; Bakker HD
Clin Chim Acta; 1978 Mar; 84(1-2):259-63. PubMed ID: 639312
[No Abstract] [Full Text] [Related]
38. Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity.
Staudt M; Wermuth B; Freisinger P; Hässler A; Pontz BF
J Inherit Metab Dis; 1998 Feb; 21(1):71-2. PubMed ID: 9501271
[No Abstract] [Full Text] [Related]
39. Prenatal molecular diagnosis of severe ornithine carbamoyltransferase deficiency due to a novel mutation, E181G.
Topaloglu AK; Sansaricq C; Fox JE; Bale AE; Tuchman M; Desnick RJ
J Inherit Metab Dis; 1999 Feb; 22(1):82-3. PubMed ID: 10070622
[No Abstract] [Full Text] [Related]
40. [Ornithine carbamoyl transferase (OCT)].
Maekawa M
Nihon Rinsho; 1995 Feb; 53 Su Pt 1():350-3. PubMed ID: 8753443
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]