Article
Assessing disease severity in Pompe disease: the roles of a urinary glucose tetrasaccharide biomarker and imaging techniques.
American journal of medical genetics. Part C, Seminars in medical genetics - 15 Feb 2012
Young Sarah P, Piraud Monique, Goldstein Jennifer L, Zhang Haoyue, Rehder Catherine, Laforet Pascal, Kishnani Priya S, Millington David S, Bashir Mustafa R, Bali Deeksha S
Abstract excerpt
Defining disease severity in patients with Pompe disease is important for prognosis and monitoring the response to therapies. Current approaches include qualitative and quantitative assessments of the disease burden, and clinical measures of the impact of the disease on affected systems. The aims of this manuscript were to review a noninvasive urinary glucose tetrasaccharide biomarker of glycogen storage, and to...
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