DOI: 10.1055/s-00029022

Journal of Pediatric Biochemistry

Ausgabe 01 · Volume 04 · März 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