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Journal of Inherited Metabolic Disease|August 27, 2020
Quantitative retrospective natural history modeling for orphan drug developmentSven F Garbade, Matthias Zielonka, Shoko Komatsuzaki, et al.Journal of Inherited Metabolic Disease|January 27, 2005
Severe neonatal onset of glycogenosis type IV: clinical and laboratory findings leading to diagnosis in two siblingsB Giuffrè, R Parini, T Rizzuti, et al.Journal of Inherited Metabolic Disease|January 27, 2005
Elevation of lung surfactant phosphatidylcholine in mouse models of Sandhoff and of Niemann-Pick A diseaseR Buccoliero, L Ginzburg, A H FutermanJournal of Inherited Metabolic Disease|January 27, 2005
Gaucher disease: variability in phenotype among siblingsD Amato, T Stachiw, J T R Clarke, et al.Journal of Inherited Metabolic Disease|January 27, 2005
Successful long-term treatment of hepatic carnitine palmitoyltransferase I deficiency and a novel mutationJ M Stoler, M A Sabry, C Hanley, et al.Journal of Inherited Metabolic Disease|January 27, 2005
Diagnostic and treatment challenges of neuronopathic Gaucher disease: two cases with an intermediate phenotypeR Hanna, M T McDonald, J A Sullivan, et al.Journal of Inherited Metabolic Disease|February 11, 2005
Promotion of oxidative stress by 3-hydroxyglutaric acid in rat striatumA Latini, K Scussiato, G Leipnitz, et al.Journal of Inherited Metabolic Disease|February 11, 2005
Vitamin D status in patients affected by Smith-Lemli-Opitz syndromeM Rossi, G Federico, G Corso, et al.Journal of Inherited Metabolic Disease|January 7, 2004
Enzyme replacement therapy in heterozygous females with Fabry disease: results of a phase IIIB studyF Baehner, C Kampmann, C Whybra, et al.Journal of Inherited Metabolic Disease|January 7, 2004
Respiratory complex II defect in siblings associated with a symptomatic secondary block in fatty acid oxidationJ J Gargus, K Boyle, M Bocian, et al.Pageof 429