Literature DB >> 11124797

Ornithine carbamoyltransferase deficiency.

J E Wraith1.   

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Year:  2001        PMID： 11124797      PMCID： PMC1718609          DOI： 10.1136/adc.84.1.84

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


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  28 in total

1.  A novel two-nucleotide deletion in the ornithine transcarbamylase gene causing fatal hyperammonia in early pregnancy.

Authors:  U Schimanski; D Krieger; M Horn; W Stremmel; B Wermuth; L Theilmann
Journal:  Hepatology       Date:  1996-12       Impact factor: 17.425

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

Authors:  M Oechsner; C Steen; H J Stürenburg; A Kohlschütter
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-05       Impact factor: 10.154

3.  Long-term treatment of girls with ornithine transcarbamylase deficiency.

Authors:  N E Maestri; S W Brusilow; D B Clissold; S S Bassett
Journal:  N Engl J Med       Date:  1996-09-19       Impact factor: 91.245

4.  Recurrent episodes of bizarre behavior in a boy with ornithine transcarbamylase deficiency: diagnostic failure of protein loading and allopurinol challenge tests.

Authors:  M Spada; O Guardamagna; D Rabier; S B van der Meer; P Parvy; J Bardet; A Ponzone; J M Saudubray
Journal:  J Pediatr       Date:  1994-08       Impact factor: 4.406

5.  Continuous venovenous hemofiltration with and without dialysis in pediatric patients.

Authors:  K M Klee; K Greenleaf; L Fouser; S L Watkins
Journal:  ANNA J       Date:  1996-02

6.  The allopurinol loading test for identification of carriers for ornithine carbamoyl transferase deficiency: studies in a healthy control population and females at risk.

Authors:  I Sebesta; L D Fairbanks; P M Davies; H A Simmonds; J V Leonard
Journal:  Clin Chim Acta       Date:  1994-01-14       Impact factor: 3.786

Review 7.  Effects of hyperammonaemia on brain function.

Authors:  R F Butterworth
Journal:  J Inherit Metab Dis       Date:  1998       Impact factor: 4.982

8.  The biochemical and molecular spectrum of ornithine transcarbamylase deficiency.

Authors:  M Tuchman; H Morizono; B S Rajagopal; R J Plante; N M Allewell
Journal:  J Inherit Metab Dis       Date:  1998       Impact factor: 4.982

9.  The molecular basis of ornithine transcarbamylase deficiency: modelling the human enzyme and the effects of mutations.

Authors:  M Tuchman; H Morizono; O Reish; X Yuan; N M Allewell
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

10.  Hyperammonemic coma due to parenteral nutrition in a woman with heterozygous ornithine transcarbamylase deficiency.

Authors:  D M Felig; S W Brusilow; J L Boyer
Journal:  Gastroenterology       Date:  1995-07       Impact factor: 22.682
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  15 in total

1.  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

2.  Ornithine transcarbamylase deficiency of a male newborn with fatal outcome.

Authors:  Benno Hartung; Oliver Temme; Eva Neuen-Jacob; Stefanie Ritz-Timme; Katrin Hinderhofer; Thomas Daldrup
Journal:  Int J Legal Med       Date:  2016-01-11       Impact factor: 2.686

3.  Determination of mutation patterns in human ornithine transcarbamylase precursor.

Authors:  Shaomin Yan; Guang Wu
Journal:  J Clin Monit Comput       Date:  2009-02-10       Impact factor: 2.502

4.  [Patients with ornithine transcarbamylase deficiency. Anaesthesiological and intensive care management].

Authors:  J Schmidt; M Schroth; A Irouschek; T Birkholz; M Kurzai; S Kröber; M Meisner; S Albrecht
Journal:  Anaesthesist       Date:  2005-12       Impact factor: 1.041

Review 5.  Epilepsy and inborn errors of metabolism in adults: a diagnostic approach.

Authors:  F Sedel; I Gourfinkel-An; O Lyon-Caen; M Baulac; J-M Saudubray; V Navarro
Journal:  J Inherit Metab Dis       Date:  2007-10-22       Impact factor: 4.982

6.  Ornithine transcarbamylase deficiency: a possible risk factor for thrombosis.

Authors:  Lakshmi Venkateswaran; Fernando Scaglia; Valerie McLin; Paula Hertel; Oleg A Shchelochkov; Saul Karpen; Donald Mahoney; Donald L Yee
Journal:  Pediatr Blood Cancer       Date:  2009-07       Impact factor: 3.167

7.  SIRT5 Deacetylates carbamoyl phosphate synthetase 1 and regulates the urea cycle.

Authors:  Takashi Nakagawa; David J Lomb; Marcia C Haigis; Leonard Guarente
Journal:  Cell       Date:  2009-05-01       Impact factor: 41.582

8.  [Ornithine transcarbamylase deficiency in adolescence and adulthood: first manifestation with life-threatening decompensation].

Authors:  M Bürle; H Mende; U Plum; M Bluthardt; M Walka; G Geldner
Journal:  Anaesthesist       Date:  2009-06       Impact factor: 1.041

9.  CPS1 maintains pyrimidine pools and DNA synthesis in KRAS/LKB1-mutant lung cancer cells.

Authors:  Jiyeon Kim; Zeping Hu; Ling Cai; Kailong Li; Eunhee Choi; Brandon Faubert; Divya Bezwada; Jaime Rodriguez-Canales; Pamela Villalobos; Yu-Fen Lin; Min Ni; Kenneth E Huffman; Luc Girard; Lauren A Byers; Keziban Unsal-Kacmaz; Christopher G Peña; John V Heymach; Els Wauters; Johan Vansteenkiste; Diego H Castrillon; Benjamin P C Chen; Ignacio Wistuba; Diether Lambrechts; Jian Xu; John D Minna; Ralph J DeBerardinis
Journal:  Nature       Date:  2017-05-24       Impact factor: 49.962

10.  Long-term outcomes in Ornithine Transcarbamylase deficiency: a series of 90 patients.

Authors:  Anais Brassier; Stephanie Gobin; Jean Baptiste Arnoux; Vassili Valayannopoulos; Florence Habarou; Manoelle Kossorotoff; Aude Servais; Valerie Barbier; Sandrine Dubois; Guy Touati; Robert Barouki; Fabrice Lesage; Laurent Dupic; Jean Paul Bonnefont; Chris Ottolenghi; Pascale De Lonlay
Journal:  Orphanet J Rare Dis       Date:  2015-05-10       Impact factor: 4.123
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