Cilt: 3 Sayı: 1 , 2.01.2011

Yıl: 2011

Diğer

 

1. Current opinion in pediatric metabolic disease

Ertan Mayatepek

Sayfa: 1-3

 

2. Diagnosis and treatment of urea cycle disorders

Johannes Haberle

Sayfa: 2-11

 

3. Congenital Hyperinsulinism: Overview and Clinical Update

Jan Marquard , Ertan Mayatepek , Thomas Meıssner

Sayfa: 1-15

 

4. Glutaric aciduria type I: A translational approach to an enigmatic disease

Sp Boy , Silvana Opp , Jana Herınger , Jürgen Okun , Sven Sauer , Stefan Kölker

Sayfa: 2-10

 

5. Inborn errors of bile acid metabolism and their diagnostic confirmation by means of mass spectrometry

Diran Herebıan , Ertan Mayatepek

Sayfa: 1-11

 

6. Minireview:Cell biological consequences of Leigh syndrome

Felix Dıstelmaıer , Peter Wıllems , Jan Smeıtınk , Werner Koopman , Ertan Mayatepek

Sayfa: 1-6

 

7. Glutathione Synthetase Deficiency: An Inborn Error of the Gamma-Glutamyl Cycle

Andrea Schlune , Ertan Mayatepek

Sayfa: 1-9

 

8. Canavan Disease: A Neurometabolic Disease Caused By Aspartoacylase Deficiency

Ute Lıenhard , Jörn Sass

Sayfa: 1-11

 

9. Lysosomal Storage Diseases To date

Björn Hoffmann , Ertan Mayatepek

Sayfa: 1-11