Literature DB >> 219172

Heritable urea cycle enzyme deficiency-liver disease in 16 patients.

D R LaBrecque, P S Latham, C A Riely, Y E Hsia, G Klatskin.   

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Year:  1979        PMID: 219172     DOI: 10.1016/s0022-3476(79)80014-1

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


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  10 in total

1.  Prospective versus clinical diagnosis and therapy of acute neonatal hyperammonaemia in two sisters with carbamyl phosphate synthetase deficiency.

Authors:  M Tuchman; S M Mauer; R A Holzknecht; M L Summar; C L Vnencak-Jones
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  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

3.  Mitochondrial abnormalities of liver in two children with citrullinaemia.

Authors:  S A Zamora; A Pinto; R B Scott; H G Parsons
Journal:  J Inherit Metab Dis       Date:  1997-08       Impact factor: 4.982

4.  AAV gene therapy corrects OTC deficiency and prevents liver fibrosis in aged OTC-knock out heterozygous mice.

Authors:  Lili Wang; Peter Bell; Hiroki Morizono; Zhenning He; Elena Pumbo; Hongwei Yu; John White; Mark L Batshaw; James M Wilson
Journal:  Mol Genet Metab       Date:  2017-03-02       Impact factor: 4.797

5.  Pyrimidine and purine metabolites in ornithine carbamoyl transferase deficiency.

Authors:  D R Webster; H A Simmonds; D M Barry; D M Becroft
Journal:  J Inherit Metab Dis       Date:  1981       Impact factor: 4.982

Review 6.  Reye's syndrome: a clinical review.

Authors:  J F Crocker; P C Bagnell
Journal:  Can Med Assoc J       Date:  1981-02-15       Impact factor: 8.262

7.  Liver pathology in a new congenital disorder of urea synthesis: N-acetylglutamate synthetase deficiency.

Authors:  A Zimmermann; C Bachmann; G Schubiger
Journal:  Virchows Arch A Pathol Anat Histopathol       Date:  1985

Review 8.  Argininosuccinate lyase deficiency-argininosuccinic aciduria and beyond.

Authors:  Ayelet Erez; Sandesh C Sreenath Nagamani; Brendan Lee
Journal:  Am J Med Genet C Semin Med Genet       Date:  2011-02-10       Impact factor: 3.908

9.  Metabolically based liver damage pathophysiology in patients with urea cycle disorders - A new hypothesis.

Authors:  Ivan Ivanovski; Miloš Ješić; Ana Ivanovski; Livia Garavelli; Petar Ivanovski
Journal:  World J Gastroenterol       Date:  2017-11-28       Impact factor: 5.742

Review 10.  Reye syndrome.

Authors:  D C De Vivo
Journal:  Neurol Clin       Date:  1985-02       Impact factor: 3.806

  10 in total

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