Literature DB >> 7310587

Partial ornithine transcarbamylase deficiency simulating Reye syndrome.

T Yokoi, K Honke, T Funabashi, R Hayashi, Y Suzuki, N Taniguchi, M Hosoya, T Saheki.   

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Year:  1981        PMID： 7310587     DOI： 10.1016/s0022-3476(81)80025-x

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


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  7 in total

1.  A novel missense mutation in exon 8 of the ornithine transcarbamylase gene in two unrelated male patients with mild ornithine transcarbamylase deficiency.

Authors:  A Hata; T Matsuura; C Setoyama; K Shimada; T Yokoi; I Akaboshi; I Matsuda
Journal:  Hum Genet       Date:  1991-05       Impact factor: 4.132

2.  Ornithine transcarbamylase deficiency: a case with a truncated enzyme precursor and a case with undetectable mRNA activity.

Authors:  H Kodama; A Ohtake; M Mori; I Okabe; M Tatibana; S Kamoshita
Journal:  J Inherit Metab Dis       Date:  1986       Impact factor: 4.982

3.  Structural organization of the human ornithine transcarbamylase gene.

Authors:  A Hata; T Tsuzuki; K Shimada; M Takiguchi; M Mori; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1988       Impact factor: 4.982

4.  Molecular basis of ornithine transcarbamylase deficiency lacking enzyme protein.

Authors:  T Saheki; Y Imamura; I Inoue; S Miura; M Mori; A Ohtake; M Tatibana; N Katsumata; T Ohno
Journal:  J Inherit Metab Dis       Date:  1984       Impact factor: 4.982

5.  Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.

Authors:  Renata C Gallagher; Christina Lam; Derek Wong; Stephen Cederbaum; Ronald J Sokol
Journal:  J Pediatr       Date:  2014-01-30       Impact factor: 4.406

6.  X-linked dominant inherited diseases with lethality in hemizygous males.

Authors:  R Wettke-Schäfer; G Kantner
Journal:  Hum Genet       Date:  1983       Impact factor: 4.132

7.  Late onset ornithine carbamoyl transferase deficiency in males.

Authors:  E Drogari; J V Leonard
Journal:  Arch Dis Child       Date:  1988-11       Impact factor: 3.791
  7 in total

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