World Society of Child Science

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

• Abstract
• PDF 136 KB

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

• Abstract
• PDF 248 KB

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

• Abstract
• PDF 225 KB

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

• Abstract
• PDF 229 KB

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

• Abstract
• PDF 516 KB

Véronique Rüfenach and Johannes Häberle
Mutation analysis of urea cycle disorders

• Abstract
• PDF 695 KB

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

• Abstract
• PDF 470 KB

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

• Abstract
• PDF 354 KB

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

• Abstract
• PDF 451 KB