Biomarkers for the mucopolysaccharidoses: Discovery and clinical utility

Article ID	Journal	Published Year	Pages	File Type
10833674	Molecular Genetics and Metabolism	2012	8 Pages	PDF

Abstract

âº Therapies targeting the etiology of some MPSs have been developed. âº Biomarkers to evaluate disease burden and measure therapeutic response are needed. âº This review focuses on current research and potential for clinical utility. âº Lessons learned from biomarker research in other LSDs are also considered.

Keywords

TLR4 Ceroid lipofuscinosis Lyso-Gb3 Urinary glycosaminoglycans Mucopolysaccharidoses GSLS MPSS Gb3 cLN HSCT GAG DPP-IV Electrospray ionization-tandem mass spectrometry MRS NRE LSD Mmps 6MWT ESI-MS/MS Six-minute walk test enzyme replacement therapy MRI Bis(monoacylglycero)phosphate Lysosomal storage disease Magnetic resonance imaging tumor necrosis factor α dipeptidyl peptidase IV Cerebral Spinal Fluid magnetic resonance spectroscopy TNF-α SELDI-TOF CSF Matrix metalloproteinases BMP Mucopolysaccharidosis biological markers MPs ERT Hematopoietic stem cell transplantation Globotriaosylsphingosine globotriaosylceramide Glycosphingolipids Glycosaminoglycan Toll-like receptor 4