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Items: 13

1.

The ornithine transcarbamylase (OTC) gene: mutations in 50 Japanese families with OTC deficiency.

Matsuda I, Tanase S.

Am J Med Genet. 1997 Sep 5;71(4):378-83. Review.

PMID:
9286441
2.

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

Tuchman M.

Hum Mutat. 1993;2(3):174-8. Review.

PMID:
8364586
3.

Mutations and polymorphisms in the human ornithine transcarbamylase gene.

Tuchman M, Jaleel N, Morizono H, Sheehy L, Lynch MG.

Hum Mutat. 2002 Feb;19(2):93-107. Review.

PMID:
11793468
4.
5.

Mutations in the X-linked pyruvate dehydrogenase (E1) alpha subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency.

Lissens W, De Meirleir L, Seneca S, Liebaers I, Brown GK, Brown RM, Ito M, Naito E, Kuroda Y, Kerr DS, Wexler ID, Patel MS, Robinson BH, Seyda A.

Hum Mutat. 2000;15(3):209-19. Review.

PMID:
10679936
6.

Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.

Caldovic L, Abdikarim I, Narain S, Tuchman M, Morizono H.

J Genet Genomics. 2015 May 20;42(5):181-94. doi: 10.1016/j.jgg.2015.04.003. Epub 2015 May 19. Review.

7.

Ornithine transcarbamylase deficiency: a urea cycle defect.

Gordon N.

Eur J Paediatr Neurol. 2003;7(3):115-21. Review.

PMID:
12788037
8.
9.

[Gene therapy for ornithine transcarbamylase (OTC) deficient mice].

Shimada T, Saheki T.

Tanpakushitsu Kakusan Koso. 1995 Dec;40(17):2674-8. Review. Japanese. No abstract available.

PMID:
8584719
10.

Primary ornithine transcarbamylase deficiency. A case report and electron microscopic study.

Aida S, Ogata T, Kamota T, Nakamura N.

Acta Pathol Jpn. 1989 Jul;39(7):451-6. Review.

PMID:
2678891
11.

[Hyperammonaemia type II as one of the congenital urea cycle defects].

Ciara E.

Med Wieku Rozwoj. 1999 Jan-Mar;3(1):83-95. Review. Polish.

PMID:
10910641
12.

[Molecular genetic studies of mitochondrial ornithine transporter deficiency (HHH syndrome)].

Tsujino S, Miyamoto T, Kanazawa N.

Nihon Rinsho. 2001 Nov;59(11):2278-84. Review. Japanese.

PMID:
11712419
13.

Mutations of the thyroxine-binding globulin gene in Japanese.

Seo H.

Intern Med. 1996 Apr;35(4):237. Review. No abstract available.

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