Ausgabe 2/2008
Inhalt (16 Artikel)
Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia—A new metabolic disorder
Karin Tuschl, Philippa B. Mills, Howard Parsons, Marian Malone, Darren Fowler, Maria Bitner-Glindzicz, Peter T. Clayton
Liver cell transplantation for the treatment of inborn errors of metabolism
J. Meyburg, G. F. Hoffmann
The consequences of extended newborn screening programmes: Do we know who needs treatment?
B. Wilcken
Inherited epithelial transporter disorders—an overview
M. J. Bergeron, A. Simonin, M. Bürzle, M. A. Hediger
Membrane translocation of glutaric acid and its derivatives
C. Mühlhausen, B. C. Burckhardt, Y. Hagos, G. Burckhardt, B. Keyser, Z. Lukacs, K. Ullrich, T. Braulke
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism
S. Kölker, S. W. Sauer, G. F. Hoffmann, I. Müller, M. A. Morath, J. G. Okun
Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: A review
M. F. B. Silva, C. C. P. Aires, P. B. M. Luis, J. P. N. Ruiter, L. IJlst, M. Duran, R. J. A. Wanders, I. Tavares de Almeida
PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disorders
F. Djouadi, J. Bastin
AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes: A review
O. Braissant, H. Henry
Sanfilippo syndrome: A mini-review
M. J. Valstar, G. J. G. Ruijter, O. P. van Diggelen, B. J. Poorthuis, F. A. Wijburg
Molecular analysis of the GlcNac-1-phosphotransferase
T. Braulke, S. Pohl, S. Storch
Molecular physiology and pathophysiology of lysosomal membrane transporters
C. Sagné, B. Gasnier
Congenital disorders of glycosylation—a challenging group of IEMs
J. Vodopiutz, O. A. Bodamer
Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients
S. Weller, H. Rosewich, J. Gärtner
Apoprotein A-V: An important regulator of triglyceride metabolism
M. Kluger, J. Heeren, M. Merkel