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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...
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| Publicat a: | JIMD Rep |
|---|---|
| Autors principals: | , , , , , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Springer Berlin Heidelberg
2015
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| Matèries: | |
| Accés en línia: | 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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