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Page 1
Experience of X-linked hypophosphatemic rickets in the Gulf Cooperation Council countries: case series.
Al-Juraibah F, Al Shaikh A, Al-Sagheir A, Babiker A, Al Nuaimi A, Al Enezi A, Mikhail GS, Mundi HA, Penninckx HK, Mustafa H, Al Ameri M, Al-Dubayee M, Ali NS, Fawzy N, Al Shammari S, Fiad T. Al-Juraibah F, et al. Among authors: al sagheir a. Endocrinol Diabetes Metab Case Rep. 2024 Apr 11;2024(2):23-0098. doi: 10.1530/EDM-23-0098. Print 2024 Apr 1. Endocrinol Diabetes Metab Case Rep. 2024. PMID: 38614130 Free PMC article.
Outcome of COVID19 in Patients With Osteogenesis Imperfecta: A Retrospective Multicenter Study in Saudi Arabia.
Alshukairi AN, Doar H, Al-Sagheir A, Bahasan MA, Sultan AA, Al Hroub MK, Itani D, Khalid I, Saeedi MF, Bakhamis S, Layqah L, Almutairi AA, Saifullah M, Hefni L, Al-Omari A, Alraddadi BM, Baharoon SA. Alshukairi AN, et al. Among authors: al sagheir a. Front Endocrinol (Lausanne). 2022 Jan 13;12:800376. doi: 10.3389/fendo.2021.800376. eCollection 2021. Front Endocrinol (Lausanne). 2022. PMID: 35095767 Free PMC article.
Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation.
Faiyaz-Ul-Haque M, AlDhalaan W, AlAshwal A, Bin-Abbas BS, AlSagheir A, Alotaiby M, Rafiq Z, Zaidi SHE. Faiyaz-Ul-Haque M, et al. J Pediatr Endocrinol Metab. 2018 Aug 28;31(8):861-868. doi: 10.1515/jpem-2017-0312. J Pediatr Endocrinol Metab. 2018. PMID: 29949513 Free article.
A high rate of novel CYP11B1 mutations in Saudi Arabia.
Alzahrani AS, Alswailem MM, Murugan AK, Alhomaidah DS, Capper CP, Auchus RJ, Qasem E, Alzahrani OS, Al-Sagheir A, Bin-Abbas B. Alzahrani AS, et al. Among authors: al sagheir a. J Steroid Biochem Mol Biol. 2017 Nov;174:217-224. doi: 10.1016/j.jsbmb.2017.09.018. Epub 2017 Sep 28. J Steroid Biochem Mol Biol. 2017. PMID: 28962970
Lethal digenic mutations in the K+ channels Kir4.1 (KCNJ10) and SLACK (KCNT1) associated with severe-disabling seizures and neurodevelopmental delay.
Hasan S, Balobaid A, Grottesi A, Dabbagh O, Cenciarini M, Rawashdeh R, Al-Sagheir A, Bove C, Macchioni L, Pessia M, Al-Owain M, D'Adamo MC. Hasan S, et al. Among authors: al sagheir a. J Neurophysiol. 2017 Oct 1;118(4):2402-2411. doi: 10.1152/jn.00284.2017. Epub 2017 Jul 26. J Neurophysiol. 2017. PMID: 28747464 Free PMC article.
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