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Journal of Inherited Metabolic Disease|February 19, 2004
Homozygous acute intermittent porphyria in a 7-year-old boy with massive excretions of porphyrins and porphyrin precursorsJ Hessels, G Voortman, A van der Wagen, et al.Journal of Inherited Metabolic Disease|February 19, 2004
Blood acylcarnitine levels in normal newborns and heterozygotes for medium-chain acyl-CoA dehydrogenase deficiency: a relationship between genotype and biochemical phenotype?D C Lehotay, J LePage, J R Thompson, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Maple syrup urine disease: interrelations between branched-chain amino-, oxo- and hydroxyacids; implications for treatment; associations with CNS dysmyelinationE Treacy, C L Clow, T R Reade, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Leucine and tissue distribution of bulky and small neutral amino acids in rats: dissociation between transport and insulin-mediated effectsC de Céspedes, J G Thoene, K Lowler, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Oligosaccharides accumulated in the bovine beta-mannosidosis kidneyM Z Jones, E J Rathke, D A Gage, et al.Journal of Inherited Metabolic Disease|January 1, 1992
Effect of methylmalonate on in vitro lactate release and carbon dioxide production by brain of suckling ratsM Wajner, J C Dutra, S E Cardoso, et al.Journal of Inherited Metabolic Disease|August 15, 2006
Barth syndrome presenting with acute metabolic decompensation in the neonatal periodMaria Alice Donati, Sabrina Malvagia, Elisabetta Pasquini, et al.Journal of Inherited Metabolic Disease|August 15, 2006
Persistent increase of plasma butyryl/isobutyrylcarnitine concentrations as marker of SCAD defect and ethylmalonic encephalopathyB Merinero, C Pérez-Cerdá, P Ruiz Sala, et al.Journal of Inherited Metabolic Disease|July 14, 2006
Seven cases of Pompe disease from GreeceM Kroos, P Manta, I Mavridou, et al.Journal of Inherited Metabolic Disease|May 4, 2005
Dominantly inherited hyperinsulinaemic hypoglycaemiaP de Lonlay, I Giurgea, C Sempoux, et al.Pageof 429