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Article

[Case of diagnostics of a rare form of glycogen disease].

Problemy endokrinologii - 4 Nov 2020

Atanesyan R A, Vorontsova M V, Vdovina T M, Klimov L Ya, Andreeva E I, Saneeva G A, Arakelyan R I

Abstract excerpt

Differential diagnosis of hypoglycemic syndrome remains an urgent problem in Pediatrics. In this article, a case of glycogen storage disease (BNG) type 0 is described in the boy, which is undoubtedly a rare pathology, which makes it difficult to diagnose this form of glycogenosis. In this description, the case of type 0 BNG is caused by a mutation in the GYS2 gene encoding the hepatic isoform of glycogen...

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PMID: 33369375
DOI: 10.14341/probl12668

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