Update on polyglucosan storage diseases
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cell Biology,Molecular Biology,General Medicine,Pathology and Forensic Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00428-019-02633-6.pdf
Reference100 articles.
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3. Alonso MD, Lomako J, Lomako WM, Whelan WJ (1994) Tyrosine-194 of glycogenin undergoes autocatalytic glucosylation but is not essential for catalytic function and activity. FEBS Lett 342:38–42
4. Kecmanovic M, Keckarevic-Markovic M, Keckarevic D et al (2016) Genetics of Lafora progressive myoclonic epilepsy: current perspectives. Appl Clin Genet 9:49–53
5. Kilimann MW, Oldfors A (2015) Glycogen pathways in disease: new developments in a classical field of medical genetics. J Inherit Metab Dis 38:483–487
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