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Results: 1 to 20 of 116

1.

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
[PubMed - indexed for MEDLINE]
2.

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
[PubMed - indexed for MEDLINE]
3.

Vomiting, ataxia, and altered mental status in an adolescent: late-onset ornithine transcarbamylase deficiency.

Myers JH, Shook JE.

Am J Emerg Med. 1996 Oct;14(6):553-7.

PMID:
8857803
[PubMed - indexed for MEDLINE]
4.

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
[PubMed - indexed for MEDLINE]
5.

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
[PubMed - indexed for MEDLINE]
6.

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
[PubMed - indexed for MEDLINE]
7.

A case of ornithine transcarbamylase deficiency with Rett syndrome manifestations.

Hyman SL, Batshaw ML.

Am J Med Genet Suppl. 1986;1:339-43.

PMID:
3087194
[PubMed - indexed for MEDLINE]
8.

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
[PubMed - indexed for MEDLINE]
9.

Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis.

Maestri NE, Clissold D, Brusilow SW.

J Pediatr. 1999 Mar;134(3):268-72.

PMID:
10064660
[PubMed - indexed for MEDLINE]
10.

Amino acid and DNA analyses in a family with ornithine transcarbamylase deficiency.

Hou JW, Wang TR.

J Formos Med Assoc. 1996 Feb;95(2):144-7.

PMID:
9064003
[PubMed - indexed for MEDLINE]
11.

Late-onset ornithine transcarbamylase deficiency in male patients.

Finkelstein JE, Hauser ER, Leonard CO, Brusilow SW.

J Pediatr. 1990 Dec;117(6):897-902. Erratum in: J Pediatr 1991 Feb;118(2):326.

PMID:
2246687
[PubMed - indexed for MEDLINE]
12.

Urea cycle disorders in Thai infants: a report of 5 cases.

Wasant P, Srisomsap C, Liammongkolkul S, Svasti J.

J Med Assoc Thai. 2002 Aug;85 Suppl 2:S720-31.

PMID:
12403252
[PubMed - indexed for MEDLINE]
13.

Late-onset presentation of ornithine transcarbamylase deficiency in a young woman with hyperammonemic coma.

Gaspari R, Arcangeli A, Mensi S, Wismayer DS, Tartaglione T, Antuzzi D, Conti G, Proietti R.

Ann Emerg Med. 2003 Jan;41(1):104-9.

PMID:
12514690
[PubMed - indexed for MEDLINE]
14.

An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient.

Burlina AB, Peduto A, Di Palma A, Bellizzi A, Sperlì D, Morrone A, Burlina AP.

J Inherit Metab Dis. 2006 Feb;29(1):179-81.

PMID:
16601886
[PubMed - indexed for MEDLINE]
15.

Congenital hyperammonemic syndromes.

Shih VE.

Clin Perinatol. 1976 Mar;3(1):3-14.

PMID:
954343
[PubMed - indexed for MEDLINE]
16.

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
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

The role of orthotopic liver transplantation in the treatment of ornithine transcarbamylase deficiency.

Busuttil AA, Goss JA, Seu P, Dulkanchainun TS, Yanni GS, McDiarmid SV, Busuttil RW.

Liver Transpl Surg. 1998 Sep;4(5):350-4. Review.

PMID:
9724471
[PubMed - indexed for MEDLINE]
19.

Partial ornithine carbamyl transferase deficiency: an inborn error of the urea cycle presenting as orotic aciduria in a male infant.

MacLeod P, Mackenzie S, Scriver CR.

Can Med Assoc J. 1972 Sep 9;107(5):405-8.

PMID:
5074751
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Hyperammonaemic encephalopathy after initiation of valproate therapy in unrecognised ornithine transcarbamylase deficiency.

Oechsner M, Steen C, Stürenburg HJ, Kohlschütter A.

J Neurol Neurosurg Psychiatry. 1998 May;64(5):680-2.

PMID:
9598692
[PubMed - indexed for MEDLINE]
Free PMC Article

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