Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.
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| Title: | Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families. |
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| Authors: | Al Busaidi, Marwa1 (AUTHOR), Mohamed, Feda E.2,3 (AUTHOR), Al-Ajmi, Eiman4 (AUTHOR), Al Hashmi, Nadia5 (AUTHOR), Al-Thihli, Khalid6 (AUTHOR), Al Futaisi, Amna7 (AUTHOR), Al Mamari, Watfa7 (AUTHOR), Al-Murshedi, Fathiya6 (AUTHOR) murshedi@squ.edu.om, Al-Jasmi, Fatma2,3,8 (AUTHOR) aljasmif@uaeu.ac.ae |
| Source: | Orphanet Journal of Rare Diseases. 11/3/2023, Vol. 18 Issue 1, p1-10. 10p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 17501172 |
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| DOI: | 10.1186/s13023-023-02946-5 |
