Vol 3, No 1 (2011)

Special issue : Current opinion in pediatric metabolic disease

Table of Contents

Editorials

Current opinion in pediatric metabolic disease PDF
Ertan MAYATEPEK

Reviews

Diagnosis and treatment of urea cycle disorders PDF
Johannes HABERLE
Congenital Hyperinsulinism: Overview and Clinical Update PDF
Jan MARQUARD, Ertan MAYATEPEK, Thomas MEISSNER
Glutaric aciduria type I: A translational approach to an enigmatic disease PDF
SP Nikolas BOY, Silvana OPP, Jana HERINGER, Jürgen G OKUN, Sven W SAUER, Stefan KÖLKER
Inborn errors of bile acid metabolism and their diagnostic confirmation by means of mass spectrometry PDF
Diran HEREBIAN, Ertan MAYATEPEK
Minireview:Cell biological consequences of Leigh syndrome PDF
Felix DISTELMAIER, Peter HGM WILLEMS, Jan AM SMEITINK, Werner JH KOOPMAN, Ertan MAYATEPEK
Glutathione Synthetase Deficiency: An Inborn Error of the Gamma-Glutamyl Cycle PDF
Andrea SCHLUNE, Ertan MAYATEPEK
Canavan Disease: A Neurometabolic Disease Caused By Aspartoacylase Deficiency PDF
Ute LIENHARD, Jörn Oliver SASS
Lysosomal Storage Diseases To date PDF
Björn HOFFMANN, Ertan MAYATEPEK


ISSN: 1309-1247