Literature DB >> 1453106

The clinical, biochemical, and molecular spectrum of ornithine transcarbamylase deficiency.

M Tuchman1.   

Abstract

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Year:  1992        PMID： 1453106

Source DB:  PubMed          Journal:  J Lab Clin Med        ISSN： 0022-2143


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  10 in total

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3.  Mutation of ornithine transcarbamylase (H136R) in a girl with severe intermittent orotic aciduria but normal enzyme activity.

Authors:  S Vella; F Steiner; V Schlumbom; R Zurbrügg; U N Wiesmann; T Schaffner; B Wermuth
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4.  Orthotopic liver transplantation for ornithine transcarbamylase deficiency with hyperammonemic encephalopathy.

Authors:  T Hasegawa; A G Tzakis; S Todo; J Reyes; B Nour; D N Finegold; T E Starzl
Journal:  J Pediatr Surg       Date:  1995-06       Impact factor: 2.545

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Review 6.  Suggested guidelines for the diagnosis and management of urea cycle disorders.

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Journal:  Orphanet J Rare Dis       Date:  2012-05-29       Impact factor: 4.123

7.  Ornithine transcarbamylase deficiency combined with type 1 diabetes mellitus - a challenge in clinical and dietary management.

Authors:  Sarah C Grünert; Pablo Villavicencio-Lorini; Bendicht Wermuth; Willy Lehnert; Jörn Oliver Sass; K Otfried Schwab
Journal:  J Diabetes Metab Disord       Date:  2013-07-05

8.  Derivation of healthy hepatocyte-like cells from a female patient with ornithine transcarbamylase deficiency through X-inactivation selection.

Authors:  Ramon Santamaria; Maria Ballester; Guillem Garcia-Llorens; Francisco Martinez; Marina Blazquez; Carmen Ribes-Koninckx; Jose V Castell; Torsten Wuestefeld; Roque Bort
Journal:  Sci Rep       Date:  2022-02-10       Impact factor: 4.379

Review 9.  Liver transplantation in rare late-onset ornithine transcarbamylase deficiency with central nervous system injury: A case report and review of the literature.

Authors:  Xin Jin; Xinchen Zeng; Dong Zhao; Nan Jiang
Journal:  Brain Behav       Date:  2022-09-20       Impact factor: 3.405

10.  Cross-sectional observational study of 208 patients with non-classical urea cycle disorders.

Authors:  Corinne M Rüegger; Martin Lindner; Diana Ballhausen; Matthias R Baumgartner; Skadi Beblo; Anibh Das; Matthias Gautschi; Esther M Glahn; Sarah C Grünert; Julia Hennermann; Michel Hochuli; Martina Huemer; Daniela Karall; Stefan Kölker; Robin H Lachmann; Amelie Lotz-Havla; Dorothea Möslinger; Jean-Marc Nuoffer; Barbara Plecko; Frank Rutsch; René Santer; Ute Spiekerkoetter; Christian Staufner; Tamar Stricker; Frits A Wijburg; Monique Williams; Peter Burgard; Johannes Häberle
Journal:  J Inherit Metab Dis       Date:  2013-06-19       Impact factor: 4.982
  10 in total

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