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	41.	Preserved fertility in a non-mosaic Klinefelter patient with a mutation in the fibroblast growth factor receptor 3 gene: case report. [electronic resource] by Juul, A Aksglaede, L Lund, A M Duno, M Skakkebaek, N E Rajpert-De Meyts, E Producer: 20070926 In: Human reproduction (Oxford, England) vol. 22 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	42.	Cognitive profile and activities of daily living: 35 patients with alpha-mannosidosis. [electronic resource] by Borgwardt, L Thuesen, A M Olsen, K J Fogh, J Dali, C I Lund, A M Producer: 20160920 In: Journal of inherited metabolic disease vol. 38 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	43.	Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group. [electronic resource] by Guffon, N Tylki-Szymanska, A Borgwardt, L Lund, A M Gil-Campos, M Parini, R Hennermann, J B Producer: 20191107 In: Molecular genetics and metabolism vol. 126 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	44.	Cataract in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD). [electronic resource] by Russell-Eggitt, I M Leonard, J V Lund, A M Manoj, B Thompson, D A Morris, A A M Producer: 20030418 In: Ophthalmic genetics vol. 24 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	45.	Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression? [electronic resource] by Klaus, V Vermeulen, T Minassian, B Israelian, N Engel, K Lund, A M Roebrock, K Christensen, E Häberle, J Producer: 20100126 In: Clinical genetics vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	46.	Patients with medium-chain acyl-coenzyme a dehydrogenase deficiency have impaired oxidation of fat during exercise but no effect of L-carnitine supplementation. [electronic resource] by Madsen, K L Preisler, N Orngreen, M C Andersen, S P Olesen, J H Lund, A M Vissing, J Producer: 20130611 In: The Journal of clinical endocrinology and metabolism vol. 98 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	47.	Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II. [electronic resource] by Pasternack, S M Betz, R C Brandrup, F Gade, E F Clemmensen, O Lund, A M Christensen, E Bygum, A Producer: 20090422 In: The British journal of dermatology vol. 160 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	48.	Adherence issues in inherited metabolic disorders treated by low natural protein diets. [electronic resource] by MaCdonald, A van Rijn, M Feillet, F Lund, A M Bernstein, L Bosch, A M Gizewska, M van Spronsen, F J Producer: 20130513 In: Annals of nutrition & metabolism vol. 61 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	49.	Skeletal phenotypes in adult patients with osteogenesis imperfecta-correlations with COL1A1/COL1A2 genotype and collagen structure. [electronic resource] by Hald, J D Folkestad, L Harsløf, T Lund, A M Duno, M Jensen, J B Neghabat, S Brixen, K Langdahl, B Producer: 20180417 In: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA vol. 27 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	50.	Carnitine levels in skeletal muscle, blood, and urine in patients with primary carnitine deficiency during intermission of L-carnitine supplementation. [electronic resource] by Rasmussen, J Thomsen, J A Olesen, J H Lund, T M Mohr, M Clementsen, J Nielsen, O W Lund, A M Producer: 20150327 In: JIMD reports vol. 20 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	51.	Carnitine transporter and holocarboxylase synthetase deficiencies in The Faroe Islands. [electronic resource] by Lund, A M Joensen, F Hougaard, D M Jensen, L K Christensen, E Christensen, M Nørgaard-Petersen, B Schwartz, M Skovby, F Producer: 20070711 In: Journal of inherited metabolic disease vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	52.	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 family. [electronic resource] by Lupi, A Rossi, A Campari, E Pecora, F Lund, A M Elcioglu, N H Gultepe, M Di Rocco, M Cetta, G Forlino, A Producer: 20061211 In: Journal of medical genetics vol. 43 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	53.	Functional disruption of pyrimidine nucleoside transporter CNT1 results in a novel inborn error of metabolism with high excretion of uridine and cytidine. [electronic resource] by Wevers, R A Christensen, M Engelke, U F H Geuer, S Coene, K L M Kwast, J T Lund, A M Vissers, L E L M Producer: 20200625 In: Journal of inherited metabolic disease vol. 42 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	54.	Alpha-mannosidosis: characterization of CNS pathology and correlation between CNS pathology and cognitive function. [electronic resource] by Borgwardt, L Danielsen, E R Thomsen, C Månsson, J E Taouatas, N Thuesen, A M Olsen, K J Fogh, J Dali, C I Lund, A M Publication details: Clinical genetics Apr 2016 In: Clinical genetics vol. 89 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	55.	Osteogenesis imperfecta and the teeth, eyes, and ears-a study of non-skeletal phenotypes in adults. [electronic resource] by Hald, J D Folkestad, L Swan, C Z Wanscher, J Schmidt, M Gjørup, H Haubek, D Leonhard, C-H Larsen, D A Hjortdal, J Ø Harsløf, T Duno, M Lund, A M Jensen, J-E B Brixen, K Langdahl, B Producer: 20190409 In: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA vol. 29 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	56.	Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study. [electronic resource] by Borgwardt, L Dali, C I Fogh, J Månsson, J E Olsen, K J Beck, H C Nielsen, K G Nielsen, L H Olsen, S O E Riise Stensland, H M F Nilssen, O Wibrand, F Thuesen, A M Pearl, T Haugsted, U Saftig, P Blanz, J Jones, S A Tylki-Szymanska, A Guffon-Fouiloux, N Beck, M Lund, A M Producer: 20140715 In: Journal of inherited metabolic disease vol. 36 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	57.	X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome. [electronic resource] by Møller, R S Jensen, L R Maas, S M Filmus, J Capurro, M Hansen, C Marcelis, C L M Ravn, K Andrieux, J Mathieu, M Kirchhoff, M Rødningen, O K de Leeuw, N Yntema, H G Froyen, G Vandewalle, J Ballon, K Klopocki, E Joss, S Tolmie, J Knegt, A C Lund, A M Hjalgrim, H Kuss, A W Tommerup, N Ullmann, R de Brouwer, A P M Strømme, P Kjaergaard, S Tümer, Z Kleefstra, T Producer: 20140530 In: Human genetics vol. 133 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)