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Journal of Inherited Metabolic Disease|May 11, 1999
Molecular heterogeneity of Krabbe diseaseL Fu, K Inui, T Nishigaki, et al.Journal of Inherited Metabolic Disease|February 24, 2001
Branched-chain L-amino acid metabolism in classical maple syrup urine disease after orthotopic liver transplantationA Bodner-Leidecker, U Wendel, J M Saudubray, et al.Journal of Inherited Metabolic Disease|February 24, 2001
Tyrosine hydroxylase deficiency unresponsive to L-dopa treatment with unusual clinical and biochemical presentationP DE Lonlay, M C Nassogne, A H van Gennip, et al.Journal of Inherited Metabolic Disease|October 13, 1999
Urinary organic acid screening in children with developmental language delayM Michelson, S Harel, A Gutman, et al.Journal of Inherited Metabolic Disease|June 23, 2000
Glucose transporters: structure, function and consequences of deficiencyG K BrownJournal of Inherited Metabolic Disease|June 23, 2000
Lysosomal transport disordersG M Mancini, A C Havelaar, F W VerheijenJournal of Inherited Metabolic Disease|June 19, 2001
The role of chaperone-assisted folding and quality control in inborn errors of metabolism: protein folding disordersN Gregersen, P Bross, B S Andrese, et al.Journal of Inherited Metabolic Disease|June 19, 2001
Rare diseases and the assessment of intervention: what sorts of clinical trials can we use?B WilckenJournal of Inherited Metabolic Disease|June 19, 2001
Newborn mass screening versus selective investigation: benefits and costsR J PollittJournal of Inherited Metabolic Disease|January 1, 1978
Deranged isoleucine metabolism during ketotic attacks in patients with methylmalonic acidaemiaM Duran, L Bruinvis, D Ketting, et al.Pageof 429