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Journal of Inherited Metabolic Disease|July 18, 2002
3-Hydroxyglutarate excretion is increased in ketotic patients: implications for glutaryl-CoA dehydrogenase deficiency testingJ Pitt, K Carpenter, B Wilcken, et al.Journal of Inherited Metabolic Disease|January 1, 1995
Development of mouse models for cystic fibrosisJ R DorinJournal of Inherited Metabolic Disease|January 1, 1995
Lipid status and fatty acid metabolism in phenylketonuriaM Giovannini, G Biasucci, C Agostoni, et al.Journal of Inherited Metabolic Disease|January 1, 1995
A new diagnostic technique for adenylosuccinate lyase deficiencyV D Domkin, T A Lazebnik, Roudneff AYu, et al.Journal of Inherited Metabolic Disease|January 1, 1995
Metachromatic leukodystrophy among southern Alaskan Eskimos: molecular and genetic studiesN M Pastor-Soler, E M Schertz, M A Rafi, et al.Journal of Inherited Metabolic Disease|January 1, 1995
Familial isolated vitamin E deficiency. Extensive study of a large family with a 5-year therapeutic follow-upJ Amiel, J C Maziere, I Beucler, et al.Journal of Inherited Metabolic Disease|January 1, 1995
Impaired ketogenesis in fructose-1,6-bisphosphatase deficiency: a pitfall in the investigation of hypoglycaemiaA A Morris, S Deshphande, M P Ward-Platt, et al.Journal of Inherited Metabolic Disease|January 1, 1995
An HPLC assay for detection of elevated urinary S-sulphocysteine, a metabolic marker of sulphite oxidase deficiencyJ L Johnson, K V RajagopalanJournal of Inherited Metabolic Disease|January 1, 1995
Abnormal alpha-aminoadipic acid excretion in a newborn with a defect in platelet aggregation and antenatal cerebral haemorrhageM Candito, C Richelme, P Parvy, et al.Journal of Inherited Metabolic Disease|January 1, 1995
A modified spectrophotometric assay for porphobilinogen deaminase: its application in the detection of both carriers and patients with acute intermittent porphyriaJ Vázquez-Prado, F J Sánchez-Anzaldo, G J Ruiz-Argüelles, et al.Pageof 429