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Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families

Document Type

Journal

Author

Al Busaidi, Marwa; Mohamed, Feda E.; Al-Ajmi, Eiman; Al Hashmi, Nadia; Al-Thihli, Khalid; Al Futaisi, Amna; Al Mamari, Watfa; Al-Murshedi, Fathiya; Al-Jasmi, Fatma

Source

ORPHANET JOURNAL OF RARE DISEASES; NOV 3 2023, 18 1, p344 10p.

Subject

Language

English

ISSN

17501172

Online Access

EBSCOHost PDF Full Text (ProQuest Central) Full Text (Gale Academic Onefile) Open Access (BioMed Central) Web of Science JCR 저널정보 Scopus Find it@PNU

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