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Page 1
Analysis of disease characteristics of a large patient cohort with congenital generalized lipodystrophy from the Middle East and North Africa.
Al Yaarubi S, Alsagheir A, Al Shidhani A, Alzelaye S, Alghazir N, Brema I, Alsaffar H, Al Dubayee M, Alshahrani A, Abdelmeguid Y, Omar OM, Attia N, Al Amiri E, Al Jubeh J, Algethami A, Alkhayyat H, Haleem A, Al Yahyaei M, Khochtali I, Babli S, Nugud A, Thalange N, Albalushi S, Hergli N, Deeb A, Alfadhel M. Al Yaarubi S, et al. Among authors: alfadhel m. Orphanet J Rare Dis. 2024 Mar 13;19(1):118. doi: 10.1186/s13023-024-03084-2. Orphanet J Rare Dis. 2024. PMID: 38481246 Free PMC article.
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. 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.
Long-term effectiveness of carglumic acid in patients with propionic acidemia (PA) and methylmalonic acidemia (MMA): a randomized clinical trial.
Alfadhel M, Nashabat M, Saleh M, Elamin M, Alfares A, Al Othaim A, Umair M, Ahmed H, Ababneh F, Al Mutairi F, Eyaid W, Alswaid A, Alohali L, Faqeih E, Almannai M, Aljeraisy M, Albdah B, Hussein MA, Rahbeeni Z, Alasmari A. Alfadhel M, et al. Orphanet J Rare Dis. 2021 Oct 11;16(1):422. doi: 10.1186/s13023-021-02032-8. Orphanet J Rare Dis. 2021. PMID: 34635114 Free PMC article. Clinical Trial.
Reply to Alsarwani, R.M. Comment on "Alghnam et al. The Association between Obesity and Chronic Conditions: Results from a Large Electronic Health Records System in Saudi Arabia. Int. J. Environ. Res. Public Health 2021, 18, 12361".
Alghnam S, Alessy SA, Bosaad M, Alzahrani S, Al Alwan I, Alqarni A, Alshammari R, Al Dubayee M, Alfadhel M. Alghnam S, et al. Among authors: alfadhel m. Int J Environ Res Public Health. 2022 Aug 10;19(16):9848. doi: 10.3390/ijerph19169848. Int J Environ Res Public Health. 2022. PMID: 36011485 Free PMC article.
Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.
Alazami AM, Al-Qattan SM, Faqeih E, Alhashem A, Alshammari M, Alzahrani F, Al-Dosari MS, Patel N, Alsagheir A, Binabbas B, Alzaidan H, Alsiddiky A, Alharbi N, Alfadhel M, Kentab A, Daza RM, Kircher M, Shendure J, Hashem M, Alshahrani S, Rahbeeni Z, Khalifa O, Shaheen R, Alkuraya FS. Alazami AM, et al. Among authors: alfadhel m. Hum Genet. 2016 May;135(5):525-540. doi: 10.1007/s00439-016-1660-z. Epub 2016 Mar 29. Hum Genet. 2016. PMID: 27023906
Guidelines for acute management of hyperammonemia in the Middle East region.
Alfadhel M, Mutairi FA, Makhseed N, Jasmi FA, Al-Thihli K, Al-Jishi E, AlSayed M, Al-Hassnan ZN, Al-Murshedi F, Häberle J, Ben-Omran T. Alfadhel M, et al. Ther Clin Risk Manag. 2016 Mar 31;12:479-87. doi: 10.2147/TCRM.S93144. eCollection 2016. Ther Clin Risk Manag. 2016. PMID: 27099506 Free PMC article.
International practices in the dietary management of fructose 1-6 biphosphatase deficiency.
Pinto A, Alfadhel M, Akroyd R, Atik Altınok Y, Bernabei SM, Bernstein L, Bruni G, Caine G, Cameron E, Carruthers R, Cochrane B, Daly A, de Boer F, Delaunay S, Dianin A, Dixon M, Drogari E, Dubois S, Evans S, Gribben J, Gugelmo G, Heidenborg C, Hunjan I, Kok IL, Kumru B, Liguori A, Mayr D, Megdad E, Meyer U, Oliveira RB, Pal A, Pozzoli A, Pretese R, Rocha JC, Rosenbaum-Fabian S, Serrano-Nieto J, Sjoqvist E, Timmer C, White L, van den Hurk T, van Rijn M, Zweers H, Ziadlou M, MacDonald A. Pinto A, et al. Among authors: alfadhel m. Orphanet J Rare Dis. 2018 Jan 25;13(1):21. doi: 10.1186/s13023-018-0760-3. Orphanet J Rare Dis. 2018. PMID: 29370874 Free PMC article.
255 results