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Results: 1 to 20 of 110

Related Citations for PubMed (Select 3367962)

1.

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
2.

[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
3.

Immunochemical assay in 16 boys with ornithine transcarbamylase deficiency.

Francois B, Briand P, Cathelineau L.

Adv Exp Med Biol. 1982;153:53-62. No abstract available.

PMID:
6819766
4.

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
5.

Failure of protein loading tests to identify heterozygosity for ornithine carbamoyltransferase deficiency.

Becroft DM, Barry DM, Webster DR, Simmonds HA.

J Inherit Metab Dis. 1984;7(4):157-9.

PMID:
6441862
7.

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
8.

DNA analysis of ornithine transcarbamylase deficiency.

Wendel U, Wilichowski E, Schmidtke J, Bachmann C.

Eur J Pediatr. 1988 May;147(4):368-71.

PMID:
2899508
9.

Partial ornithine transcarbamylase deficiency associated with recurrent hyperammonemia, lethargy and depressed sensorium.

Oizumi J, Ng WG, Koch R, Shaw KN, Sweetman L, Velazquez A, Donnell GN.

Clin Genet. 1984 Jun;25(6):538-42.

PMID:
6733950
10.

Spontaneous animal models of ornithine transcarbamylase deficiency: studies on serum and urinary nitrogenous metabolites.

Qureshi IA, Letarte J, Ouellet R.

Adv Exp Med Biol. 1982;153:173-83. No abstract available.

PMID:
7164896
11.

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
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. No abstract available.

PMID:
7279481
13.

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
14.
15.

[Familial primary ornithine carbamoyltransferase defect].

Wettstein A, Colombo JP.

Med Klin (Munich). 1986 Nov 11;81(23):767-70. German. No abstract available.

PMID:
3807826
16.

Partial ornithine transcarbamylase deficiency in females: diagnosis by an immunohistochemical method.

Hayasaka K, Metoki K, Ishiguro S, Kato S, Chiba T, Hirooka M, Kikuchi M, Kurobane I, Narisawa K, Tada K.

Eur J Pediatr. 1987 Jul;146(4):370-2.

PMID:
3308467
17.

Evidence for x-linked dominant inheritance of ornithine transcarbamylase deficiency.

Short EM, Conn HO, Snodgrass PJ, Campbell AG, Rosenberg LE.

N Engl J Med. 1973 Jan 4;288(1):7-12. No abstract available.

PMID:
4681915
18.

Ornithine transcarbamylase deficiency in females: an often overlooked cause of treatable encephalopathy.

Pridmore CL, Clarke JT, Blaser S.

J Child Neurol. 1995 Sep;10(5):369-74.

PMID:
7499756
19.

[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
20.

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
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