Journal of Pediatric Biochemistry

2014_01-_Urea_Cycle_Disorders.html

’' te gönderildi osman tarafından





Journal of Pediatric Biochemistry


Journal of Pediatric Biochemistry


Issue 01 ·


Volume 04 ·


March 2014


Urea Cycle Disorders

Guest Editorial


001


Häberle, Johannes:


Urea cycle disorders revisited – clinical, biochemical and therapeutical aspects



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


osman