Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Bianca Link"'
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101005- (2023)
Approximately two-thirds of patients with mucopolysaccharidosis II (MPS II; Hunter syndrome) have neuronopathic disease, with central nervous system involvement; one-third have non-neuronopathic disease. This analysis of data from the Hunter Outcome
Externí odkaz:
https://doaj.org/article/0f581cf4275947cc8ca13edda58177b9
Autor:
Bianca Link, Louise Lapagesse de Camargo Pinto, Roberto Giugliani, James Edmond Wraith, Nathalie Guffon, Elke Eich, Michael Beck
Publikováno v:
Orthopedic Reviews, Vol 2, Iss 2, Pp e16-e16 (2010)
Mucopolysaccharidosis type II (MPS II or Hunter syndrome) is a rare, inherited disorder caused by deficiency of the lysosomal enzyme iduronate-2-sulfatase. As a result of this deficiency, glycosaminoglycans accumulate in lysosomes in many tissues, le
Externí odkaz:
https://doaj.org/article/7670449bc8b04dc4b00bf570bc79e5ba
Autor:
Jana, Petzold, Anna Maria, Gartner, Sara, Malberg, Jessica Bianca, Link, Bianca, Bücking, Michael, Lierz, Christiane, Herden
Publikováno v:
Viruses. 14(10)
Proventricular dilatation disease (PDD) caused by parrot bornavirus (PaBV) infection is an often-fatal disease known to infect Psittaciformes. The impact of age at the time of PaBV infection on organ lesions and tissue distribution of virus antigen a
Autor:
Marianne Rohrbach, Kevin Schmid, Alexander Möller, Angela Oxenius, Anna-Barbara Schlüer, Beth Padden, Thomas Dreher, Martin Schubert, Mazda Farshad, Matthias R. Baumgartner, Georg Henze Oxenius, Markus Schmugge Liner, Bianca Link
Publikováno v:
Paediatrica Métabolisme/maladies rares. 32
Le travail interdisciplinaire consiste à rassembler les résultats d’investigations, les approches et appréciations ainsi que les méthodes de plusieurs disciplines médicales indépendantes à propos d’une problématique. Nous présentons la c
Autor:
Ans T. van der Ploeg, George J. G. Ruijter, W.W.M. Pim Pijnappel, Margreet A E M Wagenmakers, Mirjam Langeveld, Jan C. van der Meijden, Esmee Oussoren, Bianca Link
Publikováno v:
Bone. 143
The hips are frequently involved in inheritable diseases which affect the bones. The clinical and radiological presentation of these diseases may be very similar to common hip disorders as developmental dysplasia of the hip, osteoarthritis and avascu
Autor:
Bianca Link, Marianne Rohrbach, Angela Oxenius, Martin Schubert, Kevin Schmid, Markus Schmugge Liner, Anna-Barbara Schlüer, Beth Padden, Thomas Dreher, Matthias R. Baumgartner, Georg Henze Oxenius, Mazda Farshad, Alexander Möller
Bindegewebskrankheiten oder klassische Stoffwechselkrankheiten gehören zu den seltenen Krankheiten und sind in der Regel Multisystemerkrankungen. Beide Krankheitsgruppen werden am Kinderspital Zürich inter- und multidisziplinär betreut. Im Folgend
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::31d653e9c7b0b7ba3ee211fd34497283
https://www.zora.uzh.ch/id/eprint/214763/
https://www.zora.uzh.ch/id/eprint/214763/
Autor:
Joseph Muenzer, Maurizio Scarpa, Anna Tylki-Szymańska, Hernan Amartino, Paul Harmatz, Shuan-Pei Lin, Bianca Link, David Molter, Julian Raiman, David A.H. Whiteman, Jaco Botha, Dalia Jazukeviciene, Daniel Fertek, Jennifer Audi, Barbara Burton
Publikováno v:
Molecular Genetics and Metabolism. 135:S86
Publikováno v:
Molecular Genetics and Metabolism. 132:S65
Autor:
Mary C. Theroux, Joel Charrow, Tord D. Alden, Bianca Link, Renzo Manara, Catherine Ann R Breathnach, Arnaka C Offiah, William G. Mackenzie, Christian J. Hendriksz, Martha Solano, Geoffrey P Frawley
Publikováno v:
Repositorio EdocUR-U. Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Universidad del Rosario
instacron:Universidad del Rosario
Mucopolysaccharidosis IVA is an autosomal recessive condition caused by mutations in the GALNS gene, which encodes N-acetylgalactosamine-6-sulfatase, also called galactosamine-6-sulfatase (GALNS). A reduction in or absence of effective GALNS leads to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d6314f916751a0e99f50701d691cb57a
http://hdl.handle.net/11386/4566900
http://hdl.handle.net/11386/4566900
Autor:
Luisa Bonafé, Carol C Hasler, Cecilia Giunta, Leonard E Ramseier, Bianca Link, Marius Kränzlin, Marianne Rohrbach, Sheila Unger, Marco Janner, Christian Meier
Publikováno v:
Forum Médical Suisse ‒ Swiss Medical Forum. 13