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Journal of Inherited Metabolic Disease|June 10, 2006
'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometryCarlo Dionisi-Vici, Federica Deodato, Wulf Röschinger, et al.Journal of Inherited Metabolic Disease|June 10, 2006
Gene therapy of metabolic diseasesAlain Fischer, Salima Hacein-Bey-Abina, Marina Cavazzana-CalvoJournal of Inherited Metabolic Disease|June 10, 2006
Hepatocyte transplantation: studies in preclinical modelsAnne Weber, Dominique Mahieu-Caputo, Michelle Hadchouel, et al.Journal of Inherited Metabolic Disease|June 10, 2006
Limitations of enzyme replacement therapy: current and futureJ E WraithJournal of Inherited Metabolic Disease|December 27, 2006
Severe endothelial dysfunction in the aorta of a mouse model of Fabry disease; partial prevention by N-butyldeoxynojirimycin treatmentT Heare, N J Alp, D A Priestman, et al.Journal of Inherited Metabolic Disease|December 13, 2006
The course of life and quality of life of early and continuously treated Dutch patients with phenylketonuriaA M Bosch, W Tybout, F J van Spronsen, et al.Journal of Inherited Metabolic Disease|December 13, 2006
Neuropsychological profile of adult patients with Niemann-Pick C1 (NPC1) mutationsB Klarner, H H Klünemann, R Lürding, et al.Journal of Inherited Metabolic Disease|December 11, 2008
Developmental changes of oxalate excretion in enterally fed preterm infantsS Illsinger, T Lücke, B Vaske, et al.Journal of Inherited Metabolic Disease|November 8, 2008
Maple syrup urine disease (MSUD)--clinical profile of 47 Filipino patientsJ Y Lee, M A Chiong, S C Estrada, et al.Journal of Inherited Metabolic Disease|November 4, 2008
Transcellular relocation of tetrahydrobiopterin across Caco-2 cells: a model study of tetrahydrobiopterin absorption through epithelial cells of intestinal mucosaA Ohashi, M Fukumuro, K Sawabe, et al.Pageof 429