Molecular genetics and metabolismHumansMucopolysaccharidosis IIQuality of LifeEnzyme Replacement TherapyHealth Services Needs and Demand
Unmet needs in the treatment and care of somatic manifestations in mucopolysaccharidosis type II: A targeted literature review.
Barbara K Burton, Daniel Fertek, Peter S Chin, Carole Ho, Roberto Giugliani, Johanna M P van den Hout, Martin Magner, Fatih Ezgü, Moeenaldeen AlSayed, Joseph Muenzer, Torayuki Okuyama, Simon A Jones
Published: 202510.1016/j.ymgme.2025.109248
Abstract
INTRODUCTION: All people with the rare, inherited, lysosomal disease mucopolysaccharidosis type II (MPS II) experience somatic manifestations, and approximately two-thirds develop neurological and cognitive impairment. There is a well-documented need…
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