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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.
Journal of Inherited Metabolic Disease|March 9, 2019
Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidineR A Wevers, M Christensen, U F H Engelke, et al.
Clinical Genetics|July 28, 2015
Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive functionL Borgwardt, E R Danielsen, C Thomsen, et al.
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