Journal of Pediatric Biochemistry

Issue 01 · March 2014

Recommend Journal

Guest Editorial
001
Häberle, Johannes:
Urea cycle disorders revisited – clinical, biochemical and therapeutical aspects

PDF (136 kb)
Case Report
005
Staufner, Christian; Zangerl, Kathrin; Hoffmann, Georg Friedrich; Kölker, Stefan:
Variability of OTC deficiency in heterozygous carriers: Case report of a family

PDF (248 kb)
Review Article
011
Jalan, Anil Bansidhar; Kudalkar, Ketki Vinod; Jalan, Rishikesh Anil:
Management of urea cycle defects in a developing country

PDF (225 kb)
017
Bachmann, Claude:
Preanalytical effects on biochemical results for medical decisions in urea cycle defects

PDF (229 kb)
023
Gautschi, Matthias; Eggimann, Sandra; Nuoffer, Jean-Marc:
Current role of enzyme analysis for urea cycle disorders

PDF (516 kb)
033
Rüfenacht, Véronique; Häberle, Johannes:
Mutation analysis of urea cycle disorders

PDF (695 kb)
045
Martinelli, Diego:
Disorders leading to an impairment of the urea cycle and hyperammonemia

PDF (470 kb)
057
Ah Mew, Nicholas; Yudkoff, Marc; Tuchman, Mendel:
Stable isotopes in the diagnosis and treatment of inherited hyperammonemia

PDF (354 kb)
065
Viecelli, Hiu Man; Thöny, Beat:
Challenges of experimental gene therapy for urea cycle disorders

PDF (451 kb)

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