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Journal of Inherited Metabolic Disease|February 23, 2011
High-throughput structural biology of metabolic enzymes and its impact on human diseasesWyatt W Yue, Udo OppermannJournal of Inherited Metabolic Disease|February 25, 2011
Mouse models for congenital disorders of glycosylationChristian Thiel, Christian KörnerJournal of Inherited Metabolic Disease|February 25, 2011
Short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: the clinical relevance of an early diagnosis and report of four new casesEsmeralda Martins, M Luis Cardoso, Esmeralda Rodrigues, et al.Journal of Inherited Metabolic Disease|May 5, 2011
Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG): expression analysis of PMM2-CDG mutationsAna Isabel Vega, Celia Pérez-Cerdá, David Abia, et al.Journal of Inherited Metabolic Disease|May 5, 2011
Nijmegen paediatric CDG rating scale: a novel tool to assess disease progressionSamira Achouitar, Miski Mohamed, Thatjana Gardeitchik, et al.Journal of Inherited Metabolic Disease|April 6, 2011
Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapyRenzo Manara, Elena Priante, Marco Grimaldi, et al.Journal of Inherited Metabolic Disease|April 16, 2024
Long-term personalized high-protein, high-fat diet in pediatric patients with glycogen storage disease type IIIa: Evaluation of myopathy, metabolic control, physical activity, growth, and dietary complianceSema Kalkan Uçar, Yasemin Atik Altınok, Yelda Mansuroglu, et al.Journal of Inherited Metabolic Disease|January 1, 1989
The role of the blood-brain barrier in the aetiology of permanent brain dysfunction in hyperphenylalaninaemiaF A HommesJournal of Inherited Metabolic Disease|January 1, 1989
Abnormal fatty acid composition of biotin-responsive multiple carboxylase deficiency fibroblastsS Packman, S C Whitney, M Fitch, et al.Journal of Inherited Metabolic Disease|January 1, 1989
Biochemical nature of pyruvate dehydrogenase complex in the patient with primary lactic acidaemiaA Kitano, F Endo, Y Kuroda, et al.Pageof 429