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Journal of Inherited Metabolic Disease|January 26, 2017
Investigating the link of ACAD10 deficiency to type 2 diabetes mellitusKaitlyn Bloom, Al-Walid Mohsen, Anuradha Karunanidhi, et al.Journal of Inherited Metabolic Disease|January 1, 1986
Pyruvate carboxylase defect: metabolic studies on cultured skin fibroblastsJ Oizumi, W G Ng, G N DonnellJournal of Inherited Metabolic Disease|January 1, 1986
Glucose metabolism in fibroblasts from patients with erythrocyte hexokinase deficiencyM Magnani, L Chiarantini, V Stocchi, et al.Journal of Inherited Metabolic Disease|January 1, 1986
Gonadal function in patients with galactosaemiaF R Kaufman, G N Donnell, T F Roe, et al.Journal of Inherited Metabolic Disease|January 1, 1986
A new patient with hyperornithinaemia, hyperammonaemia and homocitrullinuria treated early with low protein dietL R Gjessing, H A Lunde, T Undrum, et al.Journal of Inherited Metabolic Disease|October 13, 2009
Mitochondria and diabetes mellitus: untangling a conflictive relationship?M Schiff, S Loublier, A Coulibaly, et al.Journal of Inherited Metabolic Disease|October 16, 2009
Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiencyN Vatanavicharn, C Kuptanon, S Liammongkolkul, et al.Journal of Inherited Metabolic Disease|February 12, 2014
Long-term effectiveness of enzyme replacement therapy in adults with Gaucher disease: results from the NCS-LSD cohort studyL J Anderson, W Henley, K M Wyatt, et al.Journal of Inherited Metabolic Disease|March 3, 2017
Expanding the phenotype in argininosuccinic aciduria: need for new therapiesJulien Baruteau, Elisabeth Jameson, Andrew A Morris, et al.Journal of Inherited Metabolic Disease|May 30, 2008
Clinical characterization of cardiovascular abnormalities associated with feline mucopolysaccharidosis I and VIM M Sleeper, C M Kusiak, F S Shofer, et al.Pageof 429