DOI: 10.1055/s-00029022

Journal of Pediatric Biochemistry

Issue 01 · Volume 04 · March 2014 DOI: 10.1055/s-005-29417 Urea Cycle Disorders

Guest Editorial

  • 001
    Häberle, Johannes:

    Urea cycle disorders revisited – clinical, biochemical and therapeutical aspects

    • Case Report

  • 005
    Staufner, Christian; Zangerl, Kathrin; Hoffmann, Georg Friedrich; Kölker, Stefan:

    Variability of OTC deficiency in heterozygous carriers: Case report of a family

    • Review Article

  • 011
    Jalan, Anil Bansidhar; Kudalkar, Ketki Vinod; Jalan, Rishikesh Anil:

    Management of urea cycle defects in a developing country

  • 017
    Bachmann, Claude:

    Preanalytical effects on biochemical results for medical decisions in urea cycle defects

  • 023
    Gautschi, Matthias; Eggimann, Sandra; Nuoffer, Jean-Marc:

    Current role of enzyme analysis for urea cycle disorders

  • 033
    Rüfenacht, Véronique; Häberle, Johannes:

    Mutation analysis of urea cycle disorders

  • 045
    Martinelli, Diego:

    Disorders leading to an impairment of the urea cycle and hyperammonemia

  • 057
    Ah Mew, Nicholas; Yudkoff, Marc; Tuchman, Mendel:

    Stable isotopes in the diagnosis and treatment of inherited hyperammonemia

  • 065
    Viecelli, Hiu Man; Thöny, Beat:

    Challenges of experimental gene therapy for urea cycle disorders