Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary mana...
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
About this item
Full title
Author / Creator
Hunter Syndrome Europena Expert Council , 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 , Teles, Elisa Leão , Link, Bianca , Lund, Allan M , Malm, Gunilla , Pitz, Susanne , Rothera, Michael , Stewart, Catherine , Tylki-Szymańska, Anna , van der Ploeg, Ans , Walker, Robert , Zeman, Jiri and Wraith, James E
Publisher
England: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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 changes in multiple body systems. Age at onset, signs and symptoms, and disease progression are heterogeneous, and...
Alternative Titles
Full title
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease
Authors, Artists and Contributors
Author / Creator
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
Teles, Elisa Leão
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_d63f77a4e8594226848dbc59023465a9
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_d63f77a4e8594226848dbc59023465a9
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/1750-1172-6-72
