Literature DB >> 2063931

Estimated frequency of urea cycle enzymopathies in Japan.

N Nagata, I Matsuda, K Oyanagi.   

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Year:  1991        PMID： 2063931     DOI： 10.1002/ajmg.1320390226

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


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  45 in total

1.  Long-term outcome and intervention of urea cycle disorders in Japan.

Authors:  Jun Kido; Kimitoshi Nakamura; Hiroshi Mitsubuchi; Toshihiro Ohura; Masaki Takayanagi; Masafumi Matsuo; Makoto Yoshino; Yosuke Shigematsu; Tohru Yorifuji; Mureo Kasahara; Reiko Horikawa; Fumio Endo
Journal:  J Inherit Metab Dis       Date:  2011-12-14       Impact factor: 4.982

2.  Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders--review and meta-analysis of observational studies published over more than 35 years.

Authors:  Peter Burgard; Stefan Kölker; Gisela Haege; Martin Lindner; Georg F Hoffmann
Journal:  J Inherit Metab Dis       Date:  2015-12-03       Impact factor: 4.982

3.  Improved quality of life and unchanged magnetic resonance brain imaging after living donor liver transplantation for late-onset ornithine transcarbamylase deficiency: report of a case.

Authors:  Naoki Kawagishi; Kazushige Satoh; Yoshitaka Enomoto; Yorihiro Akamatsu; Satoshi Sekiguchi; Akira Satoh; Keisei Fujimori; Yuhei Takasago; Tetsuya Ito; Toshihiro Ohura; Susumu Satomi
Journal:  Surg Today       Date:  2005       Impact factor: 2.549

4.  Specificity of PCR-SSCP for detection of the mutant ornithine transcarbamylase (OTC) gene in patients with OTC deficiency.

Authors:  R Hoshide; T Matsuura; S Komaki; E Koike; I Ueno; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

5.  Identification of two new aberrant splicings in the ornithine carbamoyltransferase (OCT) gene in two patients with early and late onset OCT deficiency.

Authors:  T Matsuura; R Hoshide; S Komaki; K Kiwaki; F Endo; S Nakamura; T Jitosho; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982

6.  Orthotopic liver transplantation in a patient with carbamyl phosphate synthetase deficiency and cystic fibrosis.

Authors:  S Sirrs; E M Yoshida; Ltk Wong; S R Erb; S W Chung; U P Steinbrecher; C H Scudamore; C Hartnett; Y Lillquist; Agf Davidson
Journal:  Paediatr Child Health       Date:  2003-10       Impact factor: 2.253

7.  1H MRS identifies symptomatic and asymptomatic subjects with partial ornithine transcarbamylase deficiency.

Authors:  A L Gropman; S T Fricke; R R Seltzer; A Hailu; A Adeyemo; A Sawyer; J van Meter; W D Gaillard; R McCarter; M Tuchman; M Batshaw
Journal:  Mol Genet Metab       Date:  2008-07-26       Impact factor: 4.797

8.  Prenatal monitoring of ornithine transcarbamoylase deficiency in two families by DNA analysis.

Authors:  T Matsuura; R Hoshide; M Fukushima; T Sakiyama; M Owada; I Matsuda
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

9.  Carbamyl phosphate synthetase I deficiency. One base substitution in an exon of the CPS I gene causes a 9-basepair deletion due to aberrant splicing.

Authors:  R Hoshide; T Matsuura; Y Haraguchi; F Endo; M Yoshinaga; I Matsuda
Journal:  J Clin Invest       Date:  1993-05       Impact factor: 14.808

10.  Cross-sectional multicenter study of patients with urea cycle disorders in the United States.

Authors:  Mendel Tuchman; Brendan Lee; Uta Lichter-Konecki; Marshall L Summar; Marc Yudkoff; Stephen D Cederbaum; Douglas S Kerr; George A Diaz; Margaretta R Seashore; Hye-Seung Lee; Robert J McCarter; Jeffrey P Krischer; Mark L Batshaw
Journal:  Mol Genet Metab       Date:  2008-06-17       Impact factor: 4.797
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