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AB067. Glucose tetrasaccharide (Glc4) level in urine sample as a biomarker for Pompe patients
Pompe disease is a lysosomal storage disease caused by an accumulation of glycogen in the lysosome due to deficiency of the lysosomal acid alpha-glucosidase (GAA) enzyme. Our team has started newborn screening of Pompe disease since 2008. Until now, around 800,000 newborns have been screening. Rapid...
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| Pubblicato in: | Ann Transl Med |
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| Autori principali: | , , , , , |
| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
AME Publishing Company
2015
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4563543/ https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3978/j.issn.2305-5839.2015.AB067 |
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