Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.
Al Busaidi M, Mohamed FE, Al-Ajmi E, Al Hashmi N, Al-Thihli K, Al Futaisi A, Al Mamari W, Al-Murshedi F, Al-Jasmi F.
Al Busaidi M, et al. Among authors: al mamari w, al futaisi a, al jasmi f, al murshedi f, al thihli k, al ajmi e, al hashmi n.
Orphanet J Rare Dis. 2023 Nov 3;18(1):344. doi: 10.1186/s13023-023-02946-5.
Orphanet J Rare Dis. 2023.
PMID: 37924129
Free PMC article.