Two fluorimetric determinations of acid α-glucosidase activity in dried blood spot: Pompe disease in Iranian population
Author:
Funder
Pasteur Institute of Iran
Ministry of Health
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry,Biophysics
Reference18 articles.
1. Liquid chromatography-tandem mass spectrometry assay of leukocyte acid α-glucosidase for post-newborn screening evaluation of pompe disease;Lin;Clin. Chem.,2017
2. Establishing pompe disease newborn screening: the role of industry;Keutzer;Int. J. Neonatal Screen.,2020
3. Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience;Niño;Eur. J. Hum. Genet.,2020
4. Glycogen storage disease type II: enzymatic screening in dried blood spots on filter paper;Chamoles;Clin. Chim. Acta,2004
5. Rapid diagnosis of late-onset Pompe disease by fluorometric assay of α-glucosidase activities in dried blood spots;Kallwass;Mol. Genet. Metabol.,2007
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