Natural progression of neurological disease in mucopolysaccharidosis type II
JB Holt, MD Poe, ML Escolar - Pediatrics, 2011 - publications.aap.org
OBJECTIVE: Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disorder
characterized by insufficiency of the iduronate-2-sulfatase enzyme, which results in excess
heparan and dermatan sulfates within the lysosomes of various tissues and organs,
including the central nervous system. The purpose of this study was to investigate the
natural progression of neurologic disease in a large cohort of patients evaluated with
standardized testing at a single institution. METHODS: During the period of December 2002 …
characterized by insufficiency of the iduronate-2-sulfatase enzyme, which results in excess
heparan and dermatan sulfates within the lysosomes of various tissues and organs,
including the central nervous system. The purpose of this study was to investigate the
natural progression of neurologic disease in a large cohort of patients evaluated with
standardized testing at a single institution. METHODS: During the period of December 2002 …
