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Page 1
6-Pyruvoyltetrahydropterin Synthase Deficiency: Review and Report of 28 Arab Subjects.
Almannai M, Felemban R, Saleh MA, Faqeih EA, Alasmari A, AlHashem A, Mohamed S, Sunbul R, Al-Murshedi F, AlThihli K, Eyaid W, Ali R, Ben-Omran T, Blau N, El-Hattab AW, Alfadhel M. Almannai M, et al. Among authors: eyaid w. Pediatr Neurol. 2019 Jul;96:40-47. doi: 10.1016/j.pediatrneurol.2019.02.008. Epub 2019 Feb 18. Pediatr Neurol. 2019. PMID: 30926181 Free article. Review.
Drug treatment of inborn errors of metabolism: a systematic review.
Alfadhel M, Al-Thihli K, Moubayed H, Eyaid W, Al-Jeraisy M. Alfadhel M, et al. Among authors: eyaid w. Arch Dis Child. 2013 Jun;98(6):454-61. doi: 10.1136/archdischild-2012-303131. Epub 2013 Mar 26. Arch Dis Child. 2013. PMID: 23532493 Free PMC article. Review.
Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.
Alfadhel M, Almuntashri M, Jadah RH, Bashiri FA, Al Rifai MT, Al Shalaan H, Al Balwi M, Al Rumayan A, Eyaid W, Al-Twaijri W. Alfadhel M, et al. Among authors: eyaid w. Orphanet J Rare Dis. 2013 Jun 6;8:83. doi: 10.1186/1750-1172-8-83. Orphanet J Rare Dis. 2013. PMID: 23742248 Free PMC article. Review.
Mucolipidosis II: first report from Saudi Arabia.
Alfadhel M, AlShehhi W, Alshaalan H, Al Balwi M, Eyaid W. Alfadhel M, et al. Among authors: eyaid w. Ann Saudi Med. 2013 Jul-Aug;33(4):382-6. doi: 10.5144/0256-4947.2013.382. Ann Saudi Med. 2013. PMID: 24060719 Free PMC article.
Clinical and molecular characteristics of mitochondrial DNA depletion syndrome associated with neonatal cholestasis and liver failure.
Al-Hussaini A, Faqeih E, El-Hattab AW, Alfadhel M, Asery A, Alsaleem B, Bakhsh E, Ali A, Alasmari A, Lone K, Nahari A, Eyaid W, Al Balwi M, Craig K, Butterworth A, He L, Taylor RW. Al-Hussaini A, et al. Among authors: eyaid w. J Pediatr. 2014 Mar;164(3):553-9.e1-2. doi: 10.1016/j.jpeds.2013.10.082. Epub 2013 Dec 8. J Pediatr. 2014. PMID: 24321534
Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.
Alfadhel M, Alrifai MT, Trujillano D, Alshaalan H, Al Othaim A, Al Rasheed S, Assiri H, Alqahtani AA, Alaamery M, Rolfs A, Eyaid W. Alfadhel M, et al. Among authors: eyaid w. JIMD Rep. 2015;22:11-6. doi: 10.1007/8904_2014_405. Epub 2015 Feb 8. JIMD Rep. 2015. PMID: 25663424 Free PMC article.
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia.
Imtiaz F, Al-Mubarak BM, Al-Mostafa A, Al-Hamed M, Allam R, Al-Hassnan Z, Al-Owain M, Al-Zaidan H, Rahbeeni Z, Qari A, Faqeih EA, Alasmari A, Al-Mutairi F, Alfadhel M, Eyaid WM, Rashed MS, Al-Sayed M. Imtiaz F, et al. JIMD Rep. 2016;29:39-46. doi: 10.1007/8904_2014_297. Epub 2015 Nov 29. JIMD Rep. 2016. PMID: 26615597 Free PMC article.
89 results