A Rare Metabolic Disorder: Two Siblings with a Pathogenic Variant in the PYGM Gene

Ateş, Kübra; Kotan, Dilcan; Avcı, Levent

doi:10.31832/smj.1777129

A Rare Metabolic Disorder: Two Siblings with a Pathogenic Variant in the PYGM Gene

Date

2026

Authors

Ateş, Kübra

Kotan, Dilcan

Avcı, Levent

Publisher

Sakarya University

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info:eu-repo/semantics/openAccess

DOI

10.31832/smj.1777129

Abstract

[Abstract Not Available]

Keywords

Tıbbi Genetik (Kanser Genetiği hariç) , Klinik Tıp Bilimleri (Diğer)

Journal or Series

Sakarya Medical Journal

Volume

16

Issue

2

URI

https://doi.org/10.31832/smj.1777129
https://hdl.handle.net/20.500.12794/550

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info:eu-repo/semantics/openAccess

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A Rare Metabolic Disorder: Two Siblings with a Pathogenic Variant in the PYGM Gene

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