70 related articles for article (PubMed ID: 3580204)
21. Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.
Oppliger Leibundgut E; Liechti-Gallati S; Colombo JP; Wermuth B
Hum Mutat; 1997; 9(5):409-11. PubMed ID: 9143919
[No Abstract] [Full Text] [Related]
22. Experience of continuous haemodiafiltration in a male neonate with ornithine transcarbamylase deficiency.
Enkai S; Yamamoto M; Hayashi K; Kobayashi M; Sasajima T; Amizuka T; Abo W
Eur J Pediatr; 2003 Oct; 162(10):729-30. PubMed ID: 12898242
[No Abstract] [Full Text] [Related]
23. Long-term treatment of girls with ornithine transcarbamylase deficiency.
Maestri NE; Brusilow SW; Clissold DB; Bassett SS
N Engl J Med; 1996 Sep; 335(12):855-9. PubMed ID: 8778603
[TBL] [Abstract][Full Text] [Related]
24. [Hyperammonemia in the newborn through ornithine transcarbamylase deficiency (author's transl)].
Plöchl E; Hilbe W; Bachmann C
Padiatr Padol; 1981; 16(2):179-88. PubMed ID: 7243329
[TBL] [Abstract][Full Text] [Related]
25. Unusual cause of general malaise: a young woman with ornithine transcarbamylase deficiency.
Singh S; Pal S; Dubrey SW
BMJ Case Rep; 2016 Jan; 2016():. PubMed ID: 26791129
[TBL] [Abstract][Full Text] [Related]
26. [Genetic counseling in ornithine carbamoyltransferase deficiency].
Pelet A; Toumas E; Rabier D; Kaplan J; Kamoun P; Frezal J; Saudubray JM; Munnich A
Ann Biol Clin (Paris); 1988; 46(7):455-9. PubMed ID: 2903704
[TBL] [Abstract][Full Text] [Related]
27. [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]
28. Ornithine transcarbamylase deficiency: enzyme studies on a further case and a method of diagnosis using plasma enzyme ratios.
Gray RG; Black JA; Lyons VH; Pollitt RJ
Pediatr Res; 1976 Nov; 10(11):918-23. PubMed ID: 980551
[TBL] [Abstract][Full Text] [Related]
29. Plasma glutamine and ammonia concentrations in ornithine carbamoyltransferase deficiency and citrullinaemia.
Wilson CJ; Lee PJ; Leonard JV
J Inherit Metab Dis; 2001 Dec; 24(7):691-5. PubMed ID: 11804205
[TBL] [Abstract][Full Text] [Related]
30. Analysis of pyrimidine synthesis de novo intermediates in urine during crisis of a patient with ornithine transcarbamylase deficiency.
van Kuilenburg AB; van Maldegem BT; Abeling NG; Wijburg FA; Duran M
Nucleosides Nucleotides Nucleic Acids; 2006; 25(9-11):1251-5. PubMed ID: 17065101
[TBL] [Abstract][Full Text] [Related]
31. Ornithine transcarbamylase deficiency. Unsuccessful therapy of neonatal hyperammonemia with N-carbamyl-L-glutamate and L-arginine.
Gelehrter TD; Rosenberg LE
N Engl J Med; 1975 Feb; 292(7):351-2. PubMed ID: 1117963
[No Abstract] [Full Text] [Related]
32. [Abrupt onset and rapid deterioration in the course of congenital ornithine transcarbamylase deficiency: a case report].
Fukuizumi H; Kudo J; Shimamura R; Fujimoto K; Ishibashi H; Niho Y; Taniyama T; Kumashiro T
Fukuoka Igaku Zasshi; 1990 Jul; 81(7):247-53. PubMed ID: 2210591
[TBL] [Abstract][Full Text] [Related]
33. Partial ornithine transcarbamylase deficiency simulating Reye syndrome.
Yokoi T; Honke K; Funabashi T; Hayashi R; Suzuki Y; Taniguchi N; Hosoya M; Saheki T
J Pediatr; 1981 Dec; 99(6):929-31. PubMed ID: 7310587
[No Abstract] [Full Text] [Related]
34. A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy.
Schimanski U; Krieger D; Horn M; Stremmel W; Wermuth B; Theilmann L
Hepatology; 1996 Dec; 24(6):1413-5. PubMed ID: 8938172
[TBL] [Abstract][Full Text] [Related]
35. [Anesthetic management of a patient with ornithine transcarbamylase deficiency].
Iida R; Nagai H; Iwasaki K; Kato J; Saeki S; Ogawa S; Suzuki H
Masui; 1996 May; 45(5):642-5. PubMed ID: 8847794
[TBL] [Abstract][Full Text] [Related]
36. [Familial primary ornithine carbamoyltransferase defect].
Wettstein A; Colombo JP
Med Klin (Munich); 1986 Nov; 81(23):767-70. PubMed ID: 3807826
[No Abstract] [Full Text] [Related]
37. Seven new mutations in the human ornithine transcarbamylase gene.
Tuchman M; Plante RJ; McCann MT; Qureshi AA
Hum Mutat; 1994; 4(1):57-60. PubMed ID: 7951259
[No Abstract] [Full Text] [Related]
38. The therapy of hyperammonemia due to ornithine transcarbamylase defiency in a male neonate.
Snyderman SE; Sansaricq C; Phansalkar SV; Schacht RC; Norton PM
Pediatrics; 1975 Jul; 56(1):65-73. PubMed ID: 1153252
[TBL] [Abstract][Full Text] [Related]
39. Use of immunocytochemical analysis of a duodenal biopsy specimen to identify a carrier of ornithine transcarbamylase deficiency.
Hamano Y; Kodama H; Fujikawa Y; Tanaka Y; Nishimura K; Yanagisawa M
N Engl J Med; 1988 Jun; 318(23):1521-3. PubMed ID: 3367962
[No Abstract] [Full Text] [Related]
40. [The dibasic amino acid metabolic disorders].
Shimizu H
Nihon Rinsho; 1992 Jul; 50(7):1555-60. PubMed ID: 1404883
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
