Medical Sciences
Early Recognition of Patients with Neuronopathic Forms of Mucopolysaccharidosis Type II in Clinical Practice
By Natalia V. Buchinskaya, Ekaterina Yu. Zakharova, Anastasia O. Vechkasova and 6 others.
Abstract
Background
Mucopolysaccharidosis type II (MPS II) is a progressive, rare, X-linked inherited disease with multi-organ involvement and a restricted life expectancy. The disease has two main forms: neuronopathic (severe) and non-neuronopathic (attenuated).
Aim
To compare the two main forms of MPS II to identify signs for early recognition of severe disease forms in daily practice.
