Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB

Insulin-like growth factor II peptide fusion enables uptake and lysosomal delivery of α-N-acetylglucosaminidase to mucopolysaccharidosis type IIIB fibroblasts

(2013) Shih-hsin Kan et al.   BIOCHEMICAL JOURNAL

Glycan-based biomarkers for mucopolysaccharidoses

(2013) Roger Lawrence et al.   MOLECULAR GENETICS AND METABOLISM

Glycosylation-independent Lysosomal Targeting of Acid α-Glucosidase Enhances Muscle Glycogen Clearance in Pompe Mice

(2012) John A. Maga et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Disease-specific non–reducing end carbohydrate biomarkers for mucopolysaccharidoses

(2012) Roger Lawrence et al.   Nature Chemical Biology

Defects in the Medial Entorhinal Cortex and Dentate Gyrus in the Mouse Model of Sanfilippo Syndrome Type B

(2011) Kazuhiro Ohmi et al.   PLoS One

4-methylumbelliferyl α-N-acetylglucosaminidase activity for diagnosis of Sanfilippo B disease

(2010) Jane Marsh et al.   CLINICAL GENETICS

Improved sample preparation method for glycan analysis of glycoproteins by CE-LIF and CE-MS

(2010) Zoltan Szabo et al.   ELECTROPHORESIS

Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy

(2009) K. Ohmi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Sanfilippo syndrome: A mini-review

(2008) M. J. Valstar et al.   JOURNAL OF INHERITED METABOLIC DISEASE