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Journal of Inherited Metabolic Disease|January 1, 1993
Excitotoxicity, energy metabolism and neurodegenerationA C Ludolph, M Riepe, K UllrichJournal of Inherited Metabolic Disease|May 11, 1999
4,5-dimethyl-3-hydroxy-2[5H]-furanone (sotolone)--the odour of maple syrup urine diseaseF Podebrad, M Heil, S Reichert, et al.Journal of Inherited Metabolic Disease|May 11, 1999
Holocarboxylase synthetase deficiency: report of a case with onset in late infancyE Touma, T Suormala, E R Baumgartner, et al.Journal of Inherited Metabolic Disease|May 11, 1999
Novel mutations in patients with fructose-1,6-bisphosphatase deficiencyB Herzog, U Wendel, A A Morris, et al.Journal of Inherited Metabolic Disease|May 11, 1999
The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathologyR Triepels, J Smeitink, J Loeffen, et al.Journal of Inherited Metabolic Disease|May 11, 1999
The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial diseaseJ R Bonham, P Guthrie, M Downing, et al.Journal of Inherited Metabolic Disease|August 18, 2000
A rapid screening procedure for the diagnosis of peroxisomal disorders: quantification of very long-chain fatty acids, as dimethylaminoethyl esters, in plasma and blood spots, by electrospray tandem mass spectrometryD W JohnsonJournal of Inherited Metabolic Disease|August 18, 2000
Reduction of large neutral amino acid concentrations in plasma and CSF of patients with maple syrup urine disease during crisesM Wajner, D M Coelho, A G Barschak, et al.Journal of Inherited Metabolic Disease|October 14, 2000
Isolated and contiguous glycerol kinase gene disorders: a reviewD R Sjarif, J K Ploos van Amstel, M Duran, et al.Journal of Inherited Metabolic Disease|October 14, 2000
Quantitative analysis of glucose-6-phosphate translocase gene expression in various human tissues and haematopoietic progenitor cellsK Ihara, A Nomura, S Hikino, et al.Pageof 429