Glycogen storage disease type III diagnostic study of choice

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Glycogen storage disease type III Microchapters

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Diagnostic Study of Choice

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]

Overview

Glycogen storage disease type 3 is diagnosed by identification of proband by molecular genetic testing. Molecular genetic testing shows biallelic pathogenic variants in AGL for patients with GSD type 3.

Diagnostic Study of Choice

Glycogen storage disease type 3 is diagnosed by identification of proband by molecular genetic testing.

Molecular genetic testing

References

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  1. Dagli A, Sentner CP, Weinstein DA. Glycogen Storage Disease Type III. 2010 Mar 9 [Updated 2016 Dec 29]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK26372/