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Journal of Inherited Metabolic Disease|January 26, 2006
Mutational spectrum in ten Italian patients affected by methylmalonyl-CoA mutase deficiencyC Cavicchi, M A Donati, E Pasquini, et al.Journal of Inherited Metabolic Disease|January 26, 2006
Methylmalonic aciduria: follow-up and enzymology on the original case after 36 yearsM D Bain, J Till, M G Jones, et al.Journal of Inherited Metabolic Disease|January 26, 2006
Influence of D-arabitol and ribitol on neuronal network activityA Klusmann, W Fleischer, A Waldhaus, et al.Journal of Inherited Metabolic Disease|January 26, 2006
Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I)M Jackson, P Clayton, S Grunewald, et al.Journal of Inherited Metabolic Disease|January 1, 1996
A point mutation in an invariant splice donor site leads to exon skipping in two unrelated Dutch patients with dihydropyrimidine dehydrogenase deficiencyP Vreken, A B Van Kuilenburg, R Meinsma, et al.Journal of Inherited Metabolic Disease|January 1, 1996
Protein kinase C activity, phosphate uptake and endogenous substrate phosphorylation are altered in Zellweger syndromeA BonehJournal of Inherited Metabolic Disease|April 9, 2008
Liver cell transplantation for the treatment of inborn errors of metabolismJ Meyburg, G F HoffmannJournal of Inherited Metabolic Disease|April 9, 2008
Functional antibody deficiency in a patient with type I Gaucher diseaseS P Jariwala, J Fodeman, G Hudes, et al.Journal of Inherited Metabolic Disease|April 9, 2008
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolismS Kölker, S W Sauer, G F Hoffmann, et al.Journal of Inherited Metabolic Disease|April 9, 2008
Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia--a new metabolic disorderKarin Tuschl, Philippa B Mills, Howard Parsons, et al.Pageof 429