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  1. No Access

    Chapter

    Clinical and Genetic Characteristics of Romanian Patients with Mucopolysaccharidosis Type II

    Background: Mucopolysaccharidosis type II (MPS II, Hunter syndrome) is a rare X-linked disorder caused by deficiency of iduronate-2-sulfatase (I2S) enzyme, which leads to the accumulation of partially digested gl...

    Camelia Alkhzouz, Cecilia Lazea, Simona Bucerzan, Ioana Nascu… in JIMD Reports, Volume 33 (2017)

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    Article

    Dynamic changes of lipid profile in Romanian patients with Gaucher disease type 1 under enzyme replacement therapy: a prospective study

    Dyslipidemia in Gaucher disease includes reduced total, low-density lipoprotein (LDL)-, and high-density lipoprotein (HDL)-cholesterol (C). No prospective analysis of lipid profile changes in treatment-naïve p...

    Anca Zimmermann, Paula Grigorescu-Sido… in Journal of Inherited Metabolic Disease (2013)