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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

Full Text 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

Full Text PDF (248 kb)

Review Article

011

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

Management of urea cycle defects in a developing country

Full Text PDF (225 kb)

017

Bachmann, Claude:

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

Full Text PDF (229 kb)

023

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

Current role of enzyme analysis for urea cycle disorders

Full Text PDF (516 kb)

033

Rüfenacht, Véronique; Häberle, Johannes:

Mutation analysis of urea cycle disorders

Full Text PDF (695 kb)

045

Martinelli, Diego:

Disorders leading to an impairment of the urea cycle and hyperammonemia

Full Text PDF (470 kb)

057

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

Stable isotopes in the diagnosis and treatment of inherited hyperammonemia

Full Text PDF (354 kb)

065

Viecelli, Hiu Man; Thöny, Beat:

Challenges of experimental gene therapy for urea cycle disorders

Full Text PDF (451 kb)