Mucopolysaccharidosis type II in females and response to enzyme replacement therapy

Agnieszka Jurecka , Zita Krumina , Zbigniew Żuber , Agnieszka Różdżyńska-Świątkowska , Anna Kloska , Barbara Czartoryska , Anna Tylki-Szymańska

Abstract

n/a
Author Agnieszka Jurecka (FB / DGB)
Agnieszka Jurecka,,
- Katedra Genetyki i Biosystematyki
, Zita Krumina
Zita Krumina,,
-
, Zbigniew Żuber
Zbigniew Żuber,,
-
, Agnieszka Różdżyńska-Świątkowska
Agnieszka Różdżyńska-Świątkowska,,
-
, Anna Kloska (FB / DMBG)
Anna Kloska,,
- Katedra Biologii i Genetyki Medycznej
, Barbara Czartoryska
Barbara Czartoryska,,
-
, Anna Tylki-Szymańska
Anna Tylki-Szymańska,,
-
Journal seriesAmerican Journal of Medical Genetics Part A, ISSN 1552-4825, (A 25 pkt)
Issue year2012
Vol158A
No2
Pages450-454
Keywords in Englishmucopolysaccharidosis type II, female Hunter syndrome, genotype, phenotype, enzyme replacement therapy
ASJC Classification2716 Genetics(clinical); 1311 Genetics
DOIDOI:10.1002/ajmg.a.34415
URL http://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.34415/pdf
Languageen angielski
Score (nominal)25
Publication indicators Scopus SNIP (Source Normalised Impact per Paper): 2014 = 1.09; WoS Impact Factor: 2012 = 2.304 (2) - 2012=2.333 (5)
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