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Page 1
The many faces of peroxisomal disorders: Lessons from a large Arab cohort.
Alshenaifi J, Ewida N, Anazi S, Shamseldin HE, Patel N, Maddirevula S, Al-Sheddi T, Alomar R, Alobeid E, Ibrahim N, Hashem M, Abdulwahab F, Jacob M, Alhashem A, Alzaidan HI, Seidahmed MZ, Alhashemi N, Rawashdeh R, Eyaid W, Al-Hassnan ZN, Rahbeeni Z, Alswaid A, Hadid A, Qari A, Mohammed DA, El Khashab HY, Alfadhel M, Abanemai M, Sunbul R, Al Tala S, Alkhalifi S, Alkharfi T, Abouelhoda M, Monies D, Al Tassan N, AlDubayan SH, Kurdi W, Al-Owain M, Dasouki MJ, Kentab AY, Atyani S, Makhseed N, Faqeih E, Shaheen R, Alkuraya FS. Alshenaifi J, et al. Among authors: sunbul r. Clin Genet. 2019 Feb;95(2):310-319. doi: 10.1111/cge.13481. Epub 2018 Dec 18. Clin Genet. 2019. PMID: 30561787
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: sunbul r. 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.
Lethal variants in humans: lessons learned from a large molecular autopsy cohort.
Shamseldin HE, AlAbdi L, Maddirevula S, Alsaif HS, Alzahrani F, Ewida N, Hashem M, Abdulwahab F, Abuyousef O, Kuwahara H, Gao X; Molecular Autopsy Consortium; Alkuraya FS. Shamseldin HE, et al. Genome Med. 2021 Oct 13;13(1):161. doi: 10.1186/s13073-021-00973-0. Genome Med. 2021. PMID: 34645488 Free PMC article.
Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.
MENA Pompe Working Group; Al Jasmi F, Al Jumah M, Alqarni F, Al-Sanna'a N, Al-Sharif F, Bohlega S, Cupler EJ, Fathalla W, Hamdan MA, Makhseed N, Nafissi S, Nilipour Y, Selim L, Shembesh N, Sunbul R, Tonekaboni SH. MENA Pompe Working Group, et al. Among authors: sunbul r. BMC Neurol. 2015 Oct 15;15:205. doi: 10.1186/s12883-015-0412-3. BMC Neurol. 2015. PMID: 26471939 Free PMC article.