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Journal of Inherited Metabolic Disease|October 14, 2000
Rolipram does not normalize very long-chain fatty acid levels in adrenoleukodystrophy protein-deficient fibroblasts and miceA Netik, A Hobel, H Rauschka, et al.Journal of Inherited Metabolic Disease|May 9, 2000
Novel mutations cause biotinidase deficiency in Turkish childrenR J Pomponio, T Coskun, M Demirkol, et al.Journal of Inherited Metabolic Disease|September 3, 1999
Regression of neuropsychological deficits in early-treated phenylketonurics during adolescenceJ Weglage, M Pietsch, J Denecke, et al.Journal of Inherited Metabolic Disease|September 3, 1999
Intermittent jaundice in patients with acute leukaemia: a common mutation of the bilirubin uridine-diphosphate glucuronosyltransferase gene among AsiansT Kimura, K Akaba, T Ikegami, et al.Journal of Inherited Metabolic Disease|October 13, 1999
Transcobalamin II deficiency with methylmalonic aciduria in three sistersH Bibi, Z Gelman-Kohan, E R Baumgartner, et al.Journal of Inherited Metabolic Disease|October 13, 1999
Towards metabolic sink therapy for mut methylmalonic acidaemia: correction of methylmalonyl-CoA mutase deficiency in T lymphocytes from a mut methylmalonic acidaemia child by retroviral-mediated gene transferC C Chang, K J Hsiao, Y M Lee, et al.Journal of Inherited Metabolic Disease|October 13, 1999
Nutritional deficiencies in a patient with glycogen storage disease type IbP S Kishnani, A Boney, Y T ChenJournal of Inherited Metabolic Disease|October 13, 1999
Adolescent myopathic presentation in two sisters with very long-chain acyl-CoA dehydrogenase deficiencyB Merinero, S I Pascual Pascual, C Pérez-Cerdá, et al.Journal of Inherited Metabolic Disease|October 13, 1999
Artefactual pyruvate and 2-oxobutyrate produced by trimethylsilylation of methylmalonic and ethylmalonic acids in the presence of oxygenO A Mamer, L Choiniere, D Boismenu, et al.Journal of Inherited Metabolic Disease|September 3, 1999
Medium-chain triglyceride loading test in carnitine-acylcarnitine translocase deficiency: insights on treatmentR Parini, F Invernizzi, F Menni, et al.Pageof 429