169 related articles for article (PubMed ID: 3201597)
1. [Prenatal diagnosis of ornithine transcarbamylase deficiency using a DNA marker analysis].
Schwartz M; Skovby F; Christensen E; Christensen NC
Ugeskr Laeger; 1988 Oct; 150(44):2641-3. PubMed ID: 3201597
[No Abstract] [Full Text] [Related]
2. Ornithine transcarbamylase deficiency: case report and review.
Bueno JD; Lutz R; Cho S
Kans Med; 1995; 96(3):135-8. PubMed ID: 8583741
[No Abstract] [Full Text] [Related]
3. The diagnosis of ornithine transcarbamylase deficiency.
Batshaw ML
J Pediatr Gastroenterol Nutr; 1985 Feb; 4(1):4-6. PubMed ID: 3981367
[No Abstract] [Full Text] [Related]
4. [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]
5. [Congenital deficiency of ornithine transcarbamylase. Description of 2 clinical cases].
D'Eufemia P; Corrado G; Sabetta G; Castro M; Martino F; Cantani A; Ruberto U
Minerva Pediatr; 1983 Mar; 35(5):219-24. PubMed ID: 6343831
[No Abstract] [Full Text] [Related]
6. Prenatal diagnosis of ornithine transcarbamylase deficiency with use of DNA polymorphisms.
Fox J; Hack AM; Fenton WA; Golbus MS; Winter S; Kalousek F; Rozen R; Brusilow SW; Rosenberg LE
N Engl J Med; 1986 Nov; 315(19):1205-8. PubMed ID: 3762643
[No Abstract] [Full Text] [Related]
7. Hyperammonemia: a deficiency of liver ornithine transcarbamylase.
Nagayama E; Kitayama T; Oguchi H; Ogata K; Tamura E
Paediatr Univ Tokyo; 1970 Dec; 18():167-73. PubMed ID: 5514641
[No Abstract] [Full Text] [Related]
8. Genetic approach to prenatal diagnosis in urea cycle defects.
Häberle J; Koch HG
Prenat Diagn; 2004 May; 24(5):378-83. PubMed ID: 15164414
[TBL] [Abstract][Full Text] [Related]
9. Prenatal monitoring in a family at high risk for ornithine transcarbamylase (OTC) deficiency: a new mutation of an A-to-C transversion in position +4 of intron 1 of the OTC gene that is likely to abolish enzyme activity.
Hoshide R; Matsuura T; Sagara Y; Kubo T; Shimadzu M; Endo F; Matsuda I
Am J Med Genet; 1996 Aug; 64(3):459-64. PubMed ID: 8862622
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Toward a molecular understanding of ornithine transcarbamylase deficiency.
Fox JE; Rosenberg LE
Adv Neurol; 1988; 48():71-81. PubMed ID: 2891259
[No Abstract] [Full Text] [Related]
12. Prenatal diagnosis of the urea cycle diseases: a survey of the European cases.
Kamoun P; Fensom AH; Shin YS; Bakker E; Colombo JP; Munnich A; Bird S; Canini S; Huijmans JG; Chadefaux-Vekemans B
Am J Med Genet; 1995 Jan; 55(2):247-50. PubMed ID: 7717428
[TBL] [Abstract][Full Text] [Related]
13. Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.
Tuchman M; Morizono H; Rajagopal BS; Plante RJ; Allewell NM
J Inherit Metab Dis; 1997 Aug; 20(4):525-7. PubMed ID: 9266388
[TBL] [Abstract][Full Text] [Related]
14. Metabolic and genetic studies of a family with ornithine transcarbamylase deficiency.
Goldstein AS; Hoogenraad NJ; Johnson JD; Fukanaga K; Swierczewski E; Cann HM; Sunshine P
Pediatr Res; 1974 Jan; 8(1):5-12. PubMed ID: 4809308
[No Abstract] [Full Text] [Related]
15. [DNA diagnosis of ornithine transcarbamylase deficiency by PCR method].
Matsuura T; Matsuda I
Tanpakushitsu Kakusan Koso; 1990 Dec; 35(17):3113-9. PubMed ID: 2287729
[No Abstract] [Full Text] [Related]
16. Carrier detection of urea cycle disorders.
Ng WG; Oizumi J; Koch R; Shaw KN; McLaren J; Donnel GN; Carter M
Pediatrics; 1981 Sep; 68(3):448-52. PubMed ID: 7279481
[No Abstract] [Full Text] [Related]
17. [Genetic diagnosis of inborn error of metabolism by microsatellite marker analysis].
Kure S
Rinsho Byori; 1996 Feb; 44(2):116-9. PubMed ID: 8851192
[TBL] [Abstract][Full Text] [Related]
18. Fatal initial adult-onset presentation of urea cycle defect.
Lien J; Nyhan WL; Barshop BA
Arch Neurol; 2007 Dec; 64(12):1777-9. PubMed ID: 18071043
[TBL] [Abstract][Full Text] [Related]
19. Rapidly fatal hyperammonemic coma in adults. Urea cycle enzyme deficiency.
Wilson BE; Hobbs WN; Newmark JJ; Farrow SJ
West J Med; 1994 Aug; 161(2):166-8. PubMed ID: 7941540
[No Abstract] [Full Text] [Related]
20. Lethal neonatal hyperammonaemia due to complete ornithine-transcarbamylase deficiency.
Campbell AG; Rosenberg LE; Snodgrass PJ; Nuzum CT
Lancet; 1971 Jul; 2(7717):217-8. PubMed ID: 4104881
[No Abstract] [Full Text] [Related]
[Next] [New Search]
