SSIEM Symposium 2007Journal of inherited metabolic disease. 2008, Vol 31, Num 2, issn 0141-8955, 145 p.Conference Proceedings

Disorders caused by deficiency of succinate-CoA ligaseOSTERGAARD, E.Journal of inherited metabolic disease. 2008, Vol 31, Num 2, pp 226-229, issn 0141-8955, 4 p.Conference Paper

Molecular physiology and pathophysiology of lysosomal membrane transportersSAGNE, C; GASNIER, B.Journal of inherited metabolic disease. 2008, Vol 31, Num 2, pp 258-266, issn 0141-8955, 9 p.Conference Paper

Inherited epithelial transporter disorders : an overviewBERGERON, M. J; SIMONIN, A; BÜRZLE, M et al.Journal of inherited metabolic disease. 2008, Vol 31, Num 2, pp 178-187, issn 0141-8955, 10 p.Conference Paper

Molecular analysis of the GlcNac-1-phosphotransferaseBRAULKE, T; POHL, S; STORCH, S et al.Journal of inherited metabolic disease. 2008, Vol 31, Num 2, pp 253-257, issn 0141-8955, 5 p.Conference Paper

Congenital disorders of glycosylation : a challenging group of IEMsVODOPIUTZ, J; BODAMER, O. A.Journal of inherited metabolic disease. 2008, Vol 31, Num 2, pp 267-269, issn 0141-8955, 3 p.Conference Paper

Liver cell transplantation for the treatment of inborn errors of metabolismMEYBURG, J; HOFFMANN, G. F.Journal of inherited metabolic disease. 2008, Vol 31, Num 2, pp 164-172, issn 0141-8955, 9 p.Conference Paper

Membrane translocation of glutaric acid and its derivativesMÜHLHAUSEN, C; BURCKHARDT, B. C; HAGOS, Y et al.Journal of inherited metabolic disease. 2008, Vol 31, Num 2, pp 188-193, issn 0141-8955, 6 p.Conference Paper

Sanfilippo syndrome : A mini-reviewVALSTAR, M. J; RUIJTER, G. J. G; VAN DIGGELEN, O. P et al.Journal of inherited metabolic disease. 2008, Vol 31, Num 2, pp 240-252, issn 0141-8955, 13 p.Conference Paper

Apoprotein A-V : An important regulator of triglyceride metabolismKLUGER, M; HEEREN, J; MERKEL, M et al.Journal of inherited metabolic disease. 2008, Vol 31, Num 2, pp 281-288, issn 0141-8955, 8 p.Conference Paper

AGAT, GAMT and SLC6A8 distribution in the central nervous system, in relation to creatine deficiency syndromes : A reviewBRAISSANT, O; HENRY, H.Journal of inherited metabolic disease. 2008, Vol 31, Num 2, pp 230-239, issn 0141-8955, 10 p.Conference Paper

PPARs as therapeutic targets for correction of inborn mitochondrial fatty acid oxidation disordersDJOUADI, F; BASTIN, J.Journal of inherited metabolic disease. 2008, Vol 31, Num 2, pp 217-225, issn 0141-8955, 9 p.Conference Paper

Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation : A reviewSILVA, M. F. B; AIRES, C. C. P; LUIS, P. B. M et al.Journal of inherited metabolic disease. 2008, Vol 31, Num 2, pp 205-216, issn 0141-8955, 12 p.Conference Paper

Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia : A new metabolic disorderTUSCHL, Karin; MILLS, Philippa B; PARSONS, Howard et al.Journal of inherited metabolic disease. 2008, Vol 31, Num 2, pp 151-163, issn 0141-8955, 13 p.Conference Paper

The consequences of extended newborn screening programmes : Do we know who needs treatment?WILCKEN, B.Journal of inherited metabolic disease. 2008, Vol 31, Num 2, pp 173-177, issn 0141-8955, 5 p.Conference Paper

Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patientsWELLER, S; ROSEWICH, H; GÄRTNER, J et al.Journal of inherited metabolic disease. 2008, Vol 31, Num 2, pp 270-280, issn 0141-8955, 11 p.Conference Paper

Pathogenesis of CNS involvement in disorders of amino and organic acid metabolismKÖLKER, S; SAUER, S. W; HOFFMANN, G. F et al.Journal of inherited metabolic disease. 2008, Vol 31, Num 2, pp 194-204, issn 0141-8955, 11 p.Conference Paper