Baseline Urinary Glucose Tetrasaccharide Concentrations in Patients with Infantile- and Late-Onset Pompe Disease Identified by Newborn Screening

Purpose: The urinary glucose tetrasaccharide, Glcα1-6Glcα1-4Glcα1-4Glc (Glc4), is a biomarker of glycogen accumulation and tissue damage and is elevated in patients with Pompe disease. We report baseline urinary Glc4 concentrations for patients with classic infantile-onset or late-onset Pompe diseas...

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Veröffentlicht in:	JIMD Reports, Volume 19 Volume 19, 2015-01, Vol.19, p.67-73
Hauptverfasser:	Chien, Yin-Hsiu, Goldstein, Jennifer L., Hwu, Wuh-Liang, Smith, P. Brian, Lee, Ni-Chung, Chiang, Shu-Chuan, Tolun, Adviye A., Zhang, Haoyue, Vaisnins, Amie E., Millington, David S., Kishnani, Priya S., Young, Sarah P.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomarker Glucose tetrasaccharide Newborn screening Pompe disease Tandem mass spectrometry
Online-Zugang:	Volltext
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