150 related articles for article (PubMed ID: 3762643)
1. 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]
2. [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]
3. 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]
4. Clinical application of DNA analysis in a family with OTC deficiency.
McClead RE; Rozen R; Fox J; Rosenberg L; Menke J; Bickers R; Morrow G
Am J Med Genet; 1986 Nov; 25(3):513-8. PubMed ID: 2878615
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. [Prenatal diagnosis of carbamyl phosphate synthetase deficiency by fetal liver biopsy].
Murotsuki J; Uehara S; Okamura K; Yajima A; Kikuchi M; Oura T; Miyabayashi S
Nihon Sanka Fujinka Gakkai Zasshi; 1991 Dec; 43(12):1613-6. PubMed ID: 1744457
[TBL] [Abstract][Full Text] [Related]
7. Family studies in ornithine transcarbamylase deficiency.
Svirklys LG; Wilcken B; Hammond J; Mackinlay AG; O'Sullivan WJ
Arch Dis Child; 1988 Mar; 63(3):297-302. PubMed ID: 3355210
[TBL] [Abstract][Full Text] [Related]
8. The clinical, biochemical, and molecular spectrum of ornithine transcarbamylase deficiency.
Tuchman M
J Lab Clin Med; 1992 Dec; 120(6):836-50. PubMed ID: 1453106
[No Abstract] [Full Text] [Related]
9. 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]
10. [Ornithine transcarbamylase deficiency (OTCD)].
Matsuura T; Matsuda I
Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):170-4. PubMed ID: 9590019
[No Abstract] [Full Text] [Related]
11. [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]
12. 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]
13. [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]
14. Prenatal diagnosis of ornithine carbamoyl transferase deficiency using a gene specific probe.
Pembrey ME; Old JM; Leonard JV; Rodeck CH; Warren R; Davies KE
J Med Genet; 1985 Dec; 22(6):462-5. PubMed ID: 3001312
[TBL] [Abstract][Full Text] [Related]
15. Acute hemiparesis as the presenting sign in a heterozygote for ornithine transcarbamylase deficiency.
de Grauw TJ; Smit LM; Brockstedt M; Meijer Y; vd Klei-von Moorsel J; Jakobs C
Neuropediatrics; 1990 Aug; 21(3):133-5. PubMed ID: 2234317
[TBL] [Abstract][Full Text] [Related]
16. Citrullinemia, report of a case, with studies on antenatal diagnosis.
Roerdink FH; Gouw WL; Okken A; van der Blij JF; Luit-de Haan G; Hommes FA; Huisjes HJ
Pediatr Res; 1973 Nov; 7(11):863-9. PubMed ID: 4749002
[No Abstract] [Full Text] [Related]
17. Prenatal molecular evaluation of six fetuses in four unrelated Korean families with ornithine transcarbamylase deficiency.
Yoo HW; Kim GH
J Korean Med Sci; 1998 Apr; 13(2):179-85. PubMed ID: 9610619
[TBL] [Abstract][Full Text] [Related]
18. [Prenatal diagnosis of inborn error of amino acid metabolism].
Kure S; Tada K
Nihon Rinsho; 1992 Jul; 50(7):1530-5. PubMed ID: 1404881
[TBL] [Abstract][Full Text] [Related]
19. [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]
20. [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]
[Next] [New Search]
