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January 30, 2019Open Access

Molecular diagnosis of glycogen storage disease type I: a review

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Authors

ZBZahra BeyzaeiBGBita Geramizadeh

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Overview

Review highlights molecular diagnostic methods for glycogen storage disease type I, indicating the importance of genetic testing.

Key Points

  • The aim is to review molecular diagnostic methods for glycogen storage disease type I, considering their advantages and disadvantages.
  • Literature search conducted from 1997 to 2017 on various databases including PubMed and Scopus.
  • Analysis of molecular genetic characteristics and diagnostic methodologies for GSD I.
  • Discussion of high-throughput advanced molecular tests and their role in diagnosis.
  • Molecular diagnosis is essential for the reliable identification of GSD type I.
  • Next-generation sequencing combined with biochemical tests improves diagnostic accuracy.
  • The review provides insights into the challenges of diagnosing genetically heterogeneous disorders.

Cite This Study

Beyzaei et al. (2019) studied this question.

synapsesocial.com/papers/6a11d0dba50709dd2cdcda03https://doi.org/10.17179/excli2018-1877
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