Volume 4, Number 1, Year 2014

Special Issue: Urea Cycle Disorders

Guest Editor: Dr. Johannes Häberle

Guest Editorial
Johannes Häberle
Urea cycle disorders revisited – clinical, biochemical and therapeutical aspects

Case Report
Christian Staufner, Kathrin Zangerl, Georg Friedrich Hoffmann, and Stefan Kölker
Variability of OTC deficiency in heterozygous carriers: Case report of a family

Review Articles
Anil Bansidhar Jalan, Ketki Vinod Kudalkar, and Rishikesh Anil Jalan
Management of urea cycle defects in a developing country

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

Matthias Gautschi, Sandra Eggimann, and Jean-Marc Nuoffer
Current role of enzyme analysis for urea cycle disorders

Véronique Rüfenach and Johannes Häberle
Mutation analysis of urea cycle disorders

Diego Martinelli
Disorders leading to an impairment of the urea cycle and hyperammonemia

Nicholas Ah Mew, Marc Yudkoff, and Mendel Tuchman
Stable isotopes in the diagnosis and treatment of inherited hyperammonemia

Hiu Man Viecelli and Beat Thöny
Challenges of experimental gene therapy for urea cycle disorders