Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
About this item
Full title
Author / Creator
de Ru, Minke H , Teunissen, Quirine GA , van der Lee, Johanna H , Beck, Michael , Bodamer, Olaf A , Clarke, Lorne A , Hollak, Carla E , Lin, Shuan-Pei , Rojas, Maria-Verónica Muñoz , Pastores, Gregory M , Raiman, Julian A , Scarpa, Maurizio , Treacy, Eileen P , Tylki-Szymanska, Anna , Edmond Wraith, J , Zeman, Jiri and Wijburg, Frits A
Publisher
England: BioMed Central Ltd
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central Ltd
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More information
Scope and Contents
Contents
Mucopolysaccharidosis type I (MPS I) is traditionally divided into three phenotypes: the severe Hurler (MPS I-H) phenotype, the intermediate Hurler-Scheie (MPS I-H/S) phenotype and the attenuated Scheie (MPS I-S) phenotype. However, there are no clear criteria for delineating the different phenotypes. Because decisions about optimal treatment (enzy...
Alternative Titles
Full title
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure
Authors, Artists and Contributors
Author / Creator
Teunissen, Quirine GA
van der Lee, Johanna H
Beck, Michael
Bodamer, Olaf A
Clarke, Lorne A
Hollak, Carla E
Lin, Shuan-Pei
Rojas, Maria-Verónica Muñoz
Pastores, Gregory M
Raiman, Julian A
Scarpa, Maurizio
Treacy, Eileen P
Tylki-Szymanska, Anna
Edmond Wraith, J
Zeman, Jiri
Wijburg, Frits A
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Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_a2524b6560c6437e8c0c754a1378af8c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a2524b6560c6437e8c0c754a1378af8c
Other Identifiers
ISSN
1750-1172
E-ISSN
1750-1172
DOI
10.1186/1750-1172-7-22
