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

dc.contributor.author	Ateş, Kübra
dc.contributor.author	Kotan, Dilcan
dc.contributor.author	Avcı, Levent
dc.date.accessioned	2026-10-09T21:04:21Z
dc.date.issued	2026
dc.department	Yüksek İhtisas Üniversitesi
dc.description.abstract	[Abstract Not Available]
dc.identifier.dergiparkid	1777129
dc.identifier.doi	10.31832/smj.1777129
dc.identifier.endpage	337
dc.identifier.issn	2146-409X
dc.identifier.issue	2
dc.identifier.orcid	0000-0002-0669-8230
dc.identifier.orcid	0000-0002-3101-4742
dc.identifier.orcid	0009-0009-2798-8526
dc.identifier.startpage	333
dc.identifier.uri	https://doi.org/10.31832/smj.1777129
dc.identifier.uri	https://hdl.handle.net/20.500.12794/550
dc.identifier.volume	16
dc.language.iso	en
dc.publisher	Sakarya University
dc.relation.ispartof	Sakarya Medical Journal
dc.relation.publicationcategory	Makale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı
dc.rights	info:eu-repo/semantics/openAccess
dc.snmz	KA_DergiPark_20260922
dc.subject	Tıbbi Genetik (Kanser Genetiği hariç)
dc.subject	Klinik Tıp Bilimleri (Diğer)
dc.title	A Rare Metabolic Disorder: Two Siblings with a Pathogenic Variant in the PYGM Gene
dc.type	Article

Collections