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Items: 1 to 20 of 231

1.

Intracranial haemorrhage in siblings and ornithine transcarbamylase deficiency.

Amir J, Alpert G, Statter M, Gutman A, Reisner SH.

Acta Paediatr Scand. 1982 Jul;71(4):671-3. No abstract available.

PMID:
7136688
2.

Lethal ornithine transcarbamylase deficiency in a female neonate: a new case.

Klosowski S, Largilliere C, Storme L, Rakza T, Rabier D, Lequien P.

Acta Paediatr. 1998 Feb;87(2):227-8. No abstract available.

PMID:
9512214
3.

[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 15;35(5):219-24. Review. Italian. No abstract available.

PMID:
6343831
4.

Cerebral dysfunction in asymptomatic carriers of ornithine transcarbamylase deficiency.

Batshaw ML, Roan Y, Jung AL, Rosenberg LA, Brusilow SW.

N Engl J Med. 1980 Feb 28;302(9):482-5.

PMID:
7351973
5.

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 9;318(23):1521-3. No abstract available.

PMID:
3367962
6.

Ornithine transcarbamylase deficiency: neuropathologic changes acquired in utero.

Filloux F, Townsend JJ, Leonard C.

J Pediatr. 1986 Jun;108(6):942-5. No abstract available.

PMID:
3712162
7.

Sporadic late onset ornithine transcarbamylase deficiency in a boy with somatic mosaicism for an intragenic deletion.

Legius E, Baten E, Stul M, Marynen P, Cassiman JJ.

Clin Genet. 1990 Aug;38(2):155-9.

PMID:
2208768
8.

Molecular basis of ornithine transcarbamylase deficiency in spf and spf-ash mutant mice.

Ohtake A, Takayanagi M, Yamamoto S, Kakinuma H, Nakajima H, Tatibana M, Mori M.

J Inherit Metab Dis. 1986;9(3):289-91. No abstract available.

PMID:
3099076
9.

Carnitine deficiency associated with ornithine transcarbamylase deficiency.

Mayatepek E, Kurczynski TW, Hoppel CL, Gunning WT.

Pediatr Neurol. 1991 May-Jun;7(3):196-9.

PMID:
1908679
10.

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. No abstract available.

PMID:
9143919
11.

[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. French.

PMID:
678030
12.

[DNA diagnosis of ornithine transcarbamylase deficiency by PCR method].

Matsuura T, Matsuda I.

Tanpakushitsu Kakusan Koso. 1990 Dec;35(17):3113-9. Japanese. No abstract available.

PMID:
2287729
13.
14.

A defect of the urea cycle--a case report.

Naughten ER, Flavin MP, O'Brien NG.

Ir J Med Sci. 1984 Dec;153(12):439-40. No abstract available.

PMID:
6519931
15.

Ornithine transcarbamylase deficiency in a boy with normal development.

Yudkoff M, Yang W, Snodgrass PJ, Segal S.

J Pediatr. 1980 Mar;96(3 Pt 1):441-3. No abstract available.

PMID:
7188954
16.

Ornithine transcarbamylase deficiency in a male: strict correlation between metabolic control and plasma arginine concentration.

Wendel U, Wieland J, Bremer HJ, Bachmann C.

Eur J Pediatr. 1989 Jan;148(4):349-52.

PMID:
2707281
17.

Seven new mutations in the human ornithine transcarbamylase gene.

Tuchman M, Plante RJ, McCann MT, Qureshi AA.

Hum Mutat. 1994;4(1):57-60. No abstract available.

PMID:
7951259
18.

Death after transplantation of a liver from a donor with unrecognized ornithine transcarbamylase deficiency.

Plöchl W, Spiss CK, Plöchl E.

N Engl J Med. 1999 Sep 16;341(12):921-2. No abstract available.

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. French.

PMID:
2903704
20.

Ornithine transcarbamylase deficiency: a cause of lethal neonatal hyperammonemia in males.

Campbell AG, Rosenberg LE, Snodgrass PJ, Nuzum CT.

N Engl J Med. 1973 Jan 4;288(1):1-6. No abstract available.

PMID:
4681895

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