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

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

doi:10.1186/s13023-023-02946-5

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

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

نتاج البحث: المساهمة في مجلة › مقال › مراجعة النظراء

اللغة الأصلية	Undefined/Unknown
دورية	Orphanet Journal of Rare Diseases
مستوى الصوت	18
رقم الإصدار	1
المعرِّفات الرقمية للأشياء	https://doi.org/10.1186/s13023-023-02946-5
حالة النشر	Published - نوفمبر 1 2023

الوصول إلى المستند

10.1186/s13023-023-02946-5

https://doi.org/10.1186%2Fs13023-023-02946-5

قم بذكر هذا

Busaidi, M. A., Mohamed, F. E., Al-Ajmi, E., Hashmi, N. A., Al-Thihli, K., Futaisi, A. A., Mamari, W. A., Al-Murshedi, F., & Al-Jasmi, F. (2023). Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families. Orphanet Journal of Rare Diseases, 18(1). https://doi.org/10.1186/s13023-023-02946-5

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families. / Busaidi, Marwa Al; Mohamed, Feda E.; Al-Ajmi, Eiman وآخرون.
في: Orphanet Journal of Rare Diseases, المجلد 18, رقم 1, ٠١.١١.٢٠٢٣.

نتاج البحث: المساهمة في مجلة › مقال › مراجعة النظراء

Busaidi, MA, Mohamed, FE, Al-Ajmi, E, Hashmi, NA, Al-Thihli, K , Futaisi, AA, Mamari, WA, Al-Murshedi, F & Al-Jasmi, F 2023, 'Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families', Orphanet Journal of Rare Diseases, المجلد 18, رقم 1. https://doi.org/10.1186/s13023-023-02946-5

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AU - Futaisi, Amna Al

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