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	161.	Does early use of enzyme replacement therapy alter the natural history of mucopolysaccharidosis I? Experience in three siblings. [electronic resource] by Laraway, Sarah Breen, Catherine Mercer, Jean Jones, Simon Wraith, James E Producer: 20140122 In: Molecular genetics and metabolism vol. 109 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	162.	p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells. [electronic resource] by Ngiwsara, Lukana Ketudat-Cairns, James R Sawangareetrakul, Phannee Charoenwattanasatien, Ratana Champattanachai, Voraratt Kuptanon, Chulaluck Pangkanon, Suthipong Tim-Aroon, Thipwimol Wattanasirichaigoon, Duangrurdee Svasti, Jisnuson Producer: 20190626 In: Annals of human genetics vol. 82 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	163.	Mapping of IDUA gene variants in Pakistani patients with mucopolysaccharidosis type 1. [electronic resource] by Zahoor, Muhammad Yasir Cheema, Huma Arshad Ijaz, Sadaqat Anjum, Muhammad Nadeem Ramzan, Khushnooda Bhinder, Munir Ahmad Producer: 20200417 In: Journal of pediatric endocrinology & metabolism : JPEM vol. 32 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	164.	Estimated birth prevalence of mucopolysaccharidoses in Brazil. [electronic resource] by Federhen, Andressa Pasqualim, Gabriela de Freitas, Talita Freitas Gonzalez, Esteban Alberto Trapp, Franciele Matte, Ursula Giugliani, Roberto Producer: 20210104 In: American journal of medical genetics. Part A vol. 182 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	165.	Huntington disease-linked locus D4S111 exposed as the alpha-L-iduronidase gene. [electronic resource] by MacDonald, M E Scott, H S Whaley, W L Pohl, T Wasmuth, J J Lehrach, H Morris, C P Frischauf, A M Hopwood, J J Gusella, J F Producer: 19911010 In: Somatic cell and molecular genetics vol. 17 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	166.	Human alpha-L-iduronidase. II. Comparative biochemical and immunologic properties of the purified low and high uptake forms. [electronic resource] by Schuchman, E H Guzman, N A Takada, G Desnick, R J Producer: 19840802 In: Enzyme vol. 31 Availability: No items available. Save to lists Add to cart (remove)
	167.	The uptake of enzymes into lysosomes: an overview. [electronic resource] by Neufeld, E F Producer: 19810317 In: Birth defects original article series vol. 16 Availability: No items available. Save to lists Add to cart (remove)
	168.	Mucopolysaccharidosis type I: identification of novel mutations that cause Hurler/Scheie syndrome in Chinese families. [electronic resource] by Lee-Chen, G J Wang, T R Producer: 19980130 In: Journal of medical genetics vol. 34 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	169.	Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients. [electronic resource] by Chkioua, Latifa Khedhiri, Souhir Turkia, Hadhami Ben Tcheng, Rémy Froissart, Roseline Chahed, Henda Ferchichi, Salima Ben Dridi, Marie Françoise Vianey-Saban, Christine Laradi, Sandrine Miled, Abdelhedi Producer: 20110922 In: Diagnostic pathology vol. 6 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	170.	[Genetic mutations and the relationship with clinical phenotype in patients with mucopolysaccharidosis type I in northeast Mexico]. [electronic resource] by Sánchez Suárez, Ana Laura Sánchez Sánchez, Luz María Producer: 20150108 In: Gaceta medica de Mexico vol. 150 Availability: No items available. Save to lists Add to cart (remove)
	171.	Agreement between the results of meta-analyses from case reports and from clinical studies regarding the efficacy of laronidase therapy in patients with mucopolysaccharidosis type I who initiated enzyme replacement therapy in adult age: An example of case reports meta-analyses as an useful tool for evidence-based medicine in rare diseases. [electronic resource] by Sampayo-Cordero, Miguel Miguel-Huguet, Bernat Pardo-Mateos, Almudena Moltó-Abad, Marc Muñoz-Delgado, Cecilia Pérez-López, Jordi Producer: 20190114 In: Molecular genetics and metabolism vol. 123 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	172.	Treatment of mucopolysaccharidosis: clinical and biochemical aspects of leucocyte transfusion as compared with plasma infusion in patients with Hurler's and Scheie's syndromes. [electronic resource] by Nishioka, J Mizushima, T Ono, K Producer: 19791129 In: Clinical orthopaedics and related research no. 140 Availability: No items available. Save to lists Add to cart (remove)
	173.	Direct demonstration of binding of a lysosomal enzyme, alpha-L-iduronidase, to receptors on cultured fibroblasts. [electronic resource] by Rome, L H Weissmann, B Neufeld, E F Producer: 19790829 In: Proceedings of the National Academy of Sciences of the United States of America vol. 76 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	174.	Simplied assay method of alpha-L-iduronidase activity in leukocytes for detection of Hurler syndrome and its carriers. [electronic resource] by Momoi, T Sudo, M Tanioka, K I Kushida, H Producer: 19780127 In: Clinica chimica acta; international journal of clinical chemistry vol. 81 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	175.	Iduronate sulfatase activity in serum, lymphocytes, and fibroblasts--simplified diagnosis of the Hunter syndrome. [electronic resource] by Liebaers, I Neufeld, E Producer: 19760925 In: Pediatric research vol. 10 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	176.	Fucosidosis in a native-born Briton. [electronic resource] by Dos Santos, P P Logan, R W Producer: 19770525 In: Journal of clinical pathology vol. 30 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	177.	Multiple mutations in a specific gene in a small geographic area: a common phenomenon? [electronic resource] by Zlotogora, J Gieselmann, V Bach, G Producer: 19960221 In: American journal of human genetics vol. 58 Availability: No items available. Save to lists Add to cart (remove)
	178.	Long-term clinical progress in bone marrow transplanted mucopolysaccharidosis type I patients with a defined genotype. [electronic resource] by Hopwood, J J Vellodi, A Scott, H S Morris, C P Litjens, T Clements, P R Brooks, D A Cooper, A Wraith, J E Producer: 19940411 In: Journal of inherited metabolic disease vol. 16 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	179.	Detection of mucopolysaccharidosis type I heterozygotes based on the biochemical characteristics of leukocyte alpha-L-iduronidase. [electronic resource] by Mandelli, Jovana Wajner, Alessandro Pires, Ricardo F Giugliani, Roberto Coelho, Janice C Producer: 20020523 In: Archives of medical research vol. 33 Online resources: Available from publisher's website Availability: No items available. Save to lists Add to cart (remove)
	180.	Mucopolysaccharidosis type I. [electronic resource] by Wraith, J E Jones, Simon Producer: 20141118 In: Pediatric endocrinology reviews : PER vol. 12 Suppl 1 Availability: No items available. Save to lists Add to cart (remove)

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Your search returned 640 results.