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pro vyhledávání: '"Link, Bianca"'
Publikováno v:
In Molecular Genetics and Metabolism Reports December 2023 37
Akademický článek
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Autor:
Oussoren, Esmee, Wagenmakers, Margreet A.E.M., Link, Bianca, van der Meijden, Jan C., Pijnappel, W.W.M. Pim, Ruijter, George J.G., Langeveld, Mirjam, van der Ploeg, Ans T.
Publikováno v:
In Bone February 2021 143
Publikováno v:
Journal of Inherited Metabolic Disease Reports; Jan2024, Vol. 65 Issue 1, p17-24, 8p
Autor:
Charrow, Joel, Alden, Tord D., Breathnach, Catherine Ann R., Frawley, Geoffrey P., Hendriksz, Christian J., Link, Bianca, Mackenzie, William G., Manara, Renzo, Offiah, Amaka C., Solano, Martha L., Theroux, Mary
Publikováno v:
In Molecular Genetics and Metabolism January 2015 114(1):11-18
Autor:
Muenzer, Joseph, Scarpa, Maurizio, Tylki-Szymańska, Anna, Amartino, Hernan, Harmatz, Paul, Lin, Shuan-Pei, Link, Bianca, Molter, David, Raiman, Julian, Whiteman, David A.H., Botha, Jaco, Jazukeviciene, Dalia, Fertek, Daniel, Audi, Jennifer, Burton, Barbara
Publikováno v:
In Molecular Genetics and Metabolism February 2022 135(2):S86-S86
Autor:
Scarpa Maurizio, Almássy Zsuzsanna, Beck Michael, Bodamer Olaf, Bruce Iain A, De Meirleir Linda, Guffon Nathalie, Guillén-Navarro Encarna, Hensman Pauline, Jones Simon, Kamin Wolfgang, Kampmann Christoph, Lampe Christina, Lavery Christine A, Leão Teles Elisa, Link Bianca, Lund Allan M, Malm Gunilla, Pitz Susanne, Rothera Michael, Stewart Catherine, Tylki-Szymańska Anna, van der Ploeg Ans, Walker Robert, Zeman Jiri, Wraith James E
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 6, Iss 1, p 72 (2011)
Abstract Mucopolysaccharidosis type II (MPS II) is a rare, life-limiting, X-linked recessive disease characterised by deficiency of the lysosomal enzyme iduronate-2-sulfatase. Consequent accumulation of glycosaminoglycans leads to pathological change
Externí odkaz:
https://doaj.org/article/d63f77a4e8594226848dbc59023465a9
Autor:
Thorne Carter, Spencer Charles, Elorduy Maria, Pastores Gregory M, Link Bianca, Koné-Paut Isabelle, Coppa Giovanni, Cimaz Rolando, Wulffraat Nico, Manger Bernhard
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 7, Iss 1, p 18 (2009)
Abstract Background Undiagnosed patients with the attenuated form of mucopolysaccharidosis (MPS) type I often have joint symptoms in childhood that prompt referral to a rheumatologist. A survey conducted by Genzyme Corporation of 60 European and Cana
Externí odkaz:
https://doaj.org/article/92a39df569ff473fa99bc2e41584912b
Publikováno v:
In Molecular Genetics and Metabolism February 2021 132(2):S65-S65
Autor:
Link, Bianca1 bianca.link@t-online.de, de Camargo Pinto, Louise Lapagesse2, Giugliani, Roberto2, Wraith, James Edmond3, Guffon, Nathalie4, Eich, Elke1, Beck, Michael1
Publikováno v:
Orthopedic Reviews. 2010, Vol. 2 Issue 2, p56-64. 9p. 1 Color Photograph, 1 Black and White Photograph, 8 Charts, 1 Graph.