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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 (Glc(4)), is a biomarker of glycogen accumulation and tissue damage and is elevated in patients with Pompe disease. We report baseline urinary Glc(4) concentrations for patients with classic infantile-onset or late-onset Pompe di...

詳細記述

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書誌詳細
出版年:JIMD Rep
主要な著者: 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.
フォーマット: Artigo
言語:Inglês
出版事項: Springer Berlin Heidelberg 2015
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC4501239/
https://ncbi.nlm.nih.gov/pubmed/25681082
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_366
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