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A novel sequence of the PHKG2 mutation associated with the first case of glycogen storage diseases type IXc in Syria: a case report and review of literature

Crossref DOI link: https://doi.org/10.1186/s13256-025-05383-z

Published Online: 2025-07-04

Update policy: https://doi.org/10.1007/springer_crossmark_policy

Authors

Harh, Seba https://orcid.org/0009-0000-0006-0378
Shahoud, Shaza

Daher, Shady

Alasmar, Diana
Funding

Funding for this research was provided by:

Damascus University (501100020595)
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Text and Data Mining valid from 2025-07-04

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Article History

Received: 9 February 2024

Accepted: 3 June 2025

First Online: 4 July 2025

Declarations

:

: We have clarified the ethical considerations. Ethical approval was not required for this case report as it does not involve any experimental procedures or interventions on human subjects outside of standard medical care. This determination was waived by the Ethics Committee of Damascus University Faculty of Medicine. Written informed consent for participation in this case report was obtained from the patient’s legal guardian.

: Written informed consent was obtained from the patient’s legal guardian for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

: The authors declare that there are no competing interests.

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