Showing results (111-120 of 127) with videos related to
Sort By:
Pageof 13
The Journal of Clinical Endocrinology and Metabolism|February 22, 2013
Patients with medium-chain acyl-coenzyme a dehydrogenase deficiency have impaired oxidation of fat during exercise but no effect of L-carnitine supplementationK L Madsen, N Preisler, M C Orngreen, et al.Acta Psychiatrica Scandinavica|May 1, 1985
Dexamethasone suppression test, TRH test and Newcastle II depression rating in the diagnosis of depressive disordersJ K Larsen, N Bjørum, C Kirkegaard, et al.Ophthalmic Genetics|March 28, 2003
Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD)I M Russell-Eggitt, J V Leonard, A M Lund, et al.Clinical Genetics|October 2, 2009
Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression?V Klaus, T Vermeulen, B Minassian, et al.Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA|June 4, 2016
Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structureJ D Hald, L Folkestad, T Harsløf, et al.Annals of Nutrition & Metabolism|December 5, 2012
Adherence issues in inherited metabolic disorders treated by low natural protein dietsA MaCdonald, M van Rijn, F Feillet, et al.JIMD Reports|February 11, 2015
Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementationJ Rasmussen, J A Thomsen, J H Olesen, et al.Journal of Inherited Metabolic Disease|April 10, 2007
Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe IslandsA M Lund, F Joensen, D M Hougaard, et al.Journal of Medical Genetics|December 5, 2006
Molecular characterisation of six patients with prolidase deficiency: identification of the first small duplication in the prolidase gene and of a mutation generating symptomatic and asymptomatic outcomes within the same familyA Lupi, A Rossi, E Campari, et al.Anesthesia and Analgesia|January 7, 2000
A multicenter study of 4-chloro-m-cresol for diagnosing malignant hyperthermia susceptibilityC P Baur, L Bellon, P Felleiter, et al.Pageof 13