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Journal of Inherited Metabolic Disease|January 5, 2002
Characterization of altered myocardial fatty acid metabolism in patients with inherited cardiomyopathyS R Bergmann, P Herrero, R Sciacca, et al.Journal of Inherited Metabolic Disease|January 5, 2002
Increased fertility in a woman with classic galactosaemiaV KimonisJournal of Inherited Metabolic Disease|January 5, 2002
Gaucher disease: understanding the molecular pathogenesis of sphingolipidosesT M CoxJournal of Inherited Metabolic Disease|January 5, 2002
Natural history of Fabry disease in males: preliminary observationsR SchiffmannJournal of Inherited Metabolic Disease|January 5, 2002
Lessons learned from the development of enzyme therapy for Gaucher diseaseJ A Barranger, E O'RourkeJournal of Inherited Metabolic Disease|January 31, 2003
CblE type of homocystinuria due to methionine synthase reductase deficiency: clinical and molecular studies and prenatal diagnosis in two familiesP Zavadakova, B Fowler, J Zeman, et al.Journal of Inherited Metabolic Disease|January 31, 2003
Niemann-Pick disease type C in adultsJ Imrie, S Vijayaraghaven, C Whitehouse, et al.Journal of Inherited Metabolic Disease|January 31, 2003
Ramipril treatment in a patient with glycogen storage disease I non-AM L Giannì, M Bonvissuto, M Gallieni, et al.Journal of Inherited Metabolic Disease|January 31, 2003
Selective screening of amino acid disorders in the south-west of Iran, ShirazJ Golbahar, Z Karamizadeh, Z HonardarJournal of Inherited Metabolic Disease|July 26, 2002
Primary and secondary defects of the mitochondrial respiratory chainA H V SchapiraPageof 429