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Items: 1 to 20 of 91

1.

Fetal liver biopsy for prenatal diagnosis of ornithine carbamyl transferase deficiency.

Rodeck CH, Patrick AD, Pembrey ME, Tzannatos C, Whitfield AE.

Lancet. 1982 Aug 7;2(8293):297-300. No abstract available.

PMID:
6124717
2.

[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. Japanese.

PMID:
1744457
3.

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 6;315(19):1205-8. No abstract available.

PMID:
3762643
4.

Fetoscopy.

Benzie RJ.

Birth Defects Orig Artic Ser. 1977;13(3D):181-9. No abstract available.

PMID:
922136
5.
6.

Hyperammonemia through deficiency of ornithine carbamyl transferase.

Farriaux JP, Dhondt JL, Cathelineau L, Ratel J, Fontaine G.

Z Kinderheilkd. 1974;118(3):231-47. No abstract available.

PMID:
4446691
7.

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.

8.

Fetal liver biopsy for prenatal diagnosis of carbamoyl phosphate synthetase deficiency.

Murotsuki J, Uehara S, Okamura K, Yajima A, Oura T, Miyabayashi S.

Am J Perinatol. 1994 Mar;11(2):160-2. Review.

PMID:
8198660
9.

Neonatal form of the hyperornithinaemia, hyperammonaemia, and homocitrullinuria (HHH) syndrome and prenatal diagnosis.

Shih VE, Laframboise R, Mandell R, Pichette J.

Prenat Diagn. 1992 Sep;12(9):717-23. No abstract available.

PMID:
1438066
10.

Fetoscopy: a tool for fetal diagnosis, therapy, and research.

King JC, Mattison DR.

Semin Perinatol. 1982 Apr;6(2):195-204. No abstract available.

PMID:
7100936
11.

Sodium valproate and ornithine carbamyl transferase deficiency.

Tripp JH, Hargreaves T, Anthony PP, Searle JF, Miller P, Leonard JV, Patrick AD, Oberholzer VG.

Lancet. 1981 May 23;1(8230):1165-6. No abstract available.

PMID:
6112522
12.

[Detection of female carriers of ornithine-carbamyl-transferase deficiency by measurement of orotic acid in the urine].

Dhondt JL, Farriaux JP.

Lille Med. 1975 Oct;20(8):727-30. French. No abstract available.

PMID:
1219292
14.

Ornithine carbamoyl transferase deficiency: findings, models and problems.

Bachmann C.

J Inherit Metab Dis. 1992;15(4):578-91. Review.

PMID:
1528018
15.

[Changes of urinary excretion of orotic acid in a patient with ornithine carbamyl transferase deficiency].

Sakane Y, Sugimoto T.

Rinsho Byori. 1982 May;30(5):547-50. Japanese. No abstract available.

PMID:
7131821
16.

Four-decade-old mummified umbilical tissue making retrospective molecular diagnosis of ornithine carbamoyltransferase deficiency.

Takenouchi T, Tsukahara Y, Horikawa R, Kosaki K, Kosaki R.

Am J Med Genet A. 2014 Oct;164A(10):2679-81. doi: 10.1002/ajmg.a.36671. Epub 2014 Aug 13. No abstract available.

PMID:
25123069
17.

Clinical application of DNA analysis in a family with OTC deficiency.

McClead RE Jr, Rozen R, Fox J, Rosenberg L, Menke J, Bickers R, Morrow G 3rd.

Am J Med Genet. 1986 Nov;25(3):513-8.

PMID:
2878615
18.

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.

19.

Antenatal diagnosis of argininosuccinic aciduria.

Goodman SI, Mace JW, Turner B, Garrett WJ.

Clin Genet. 1973;4(3):236-40. No abstract available.

PMID:
4765206
20.

Prenatal diagnosis. Fetoscopy.

Nicolaides K, Rodeck CH.

Br J Hosp Med. 1984 Jun;31(6):396-405.

PMID:
6430373

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