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Items: 1 to 20 of 343

1.

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
2.

Risk of serious illness in heterozygotes for ornithine transcarbamylase deficiency.

Batshaw ML, Msall M, Beaudet AL, Trojak J.

J Pediatr. 1986 Feb;108(2):236-41.

PMID:
3944708
3.

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
4.

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
5.

Hyperammonemia due to a defect in hepatic ornithine transcarbamylase.

Sunshine P, Lindenbaum JE, Levy HL, Freeman JM.

Pediatrics. 1972 Jul;50(1):100-11. No abstract available.

PMID:
5038084
6.

[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
7.

[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
8.

Ornithine transcarbamylase deficiency in male adolescence and adulthood.

Yoshino M, Nishiyori J, Yamashita F, Kumashiro R, Abe H, Tanikawa K, Ohno T, Nakao K, Kaku N, Fukushima H, et al.

Enzyme. 1990;43(3):160-8.

PMID:
2095337
9.

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
10.

Natural history of symptomatic partial ornithine transcarbamylase deficiency.

Rowe PC, Newman SL, Brusilow SW.

N Engl J Med. 1986 Feb 27;314(9):541-7.

PMID:
3945292
11.

Unusual biochemical and clinical features in a girl with ornithine transcarbamylase deficiency.

Lacey DJ, Duffner PK, Cohen ME, Mosovich L.

Pediatr Neurol. 1986 Jan-Feb;2(1):51-3.

PMID:
3508674
12.

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
13.
14.

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
15.

Studies of the cause and treatment of hyperammonemia in females with ornithine transcarbamylase deficiency.

Glasgow AM, Kraegel JH, Schulman JD.

Pediatrics. 1978 Jul;62(1):30-7.

PMID:
683780
16.

Attempted dietary treatment of a boy with hyperammonemia due to ornithine transferase deficiency.

van der Heiden C, Bakker HD, Desplanque J, Brink M, de Bree PK, Wadman SK.

Eur J Pediatr. 1978 Jul 19;128(4):261-72.

PMID:
668733
17.

Study of enzyme defect in a case of ornithine transcarbamylase deficiency.

Qureshi IA, Letarte J, Quellet R.

Diabete Metab. 1978 Dec;4(4):239-41.

PMID:
729890
18.
19.

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
20.

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
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