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Page 1
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
Wong SY, Beamer LJ, Gadomski T, Honzik T, Mohamed M, Wortmann SB, Brocke Holmefjord KS, Mork M, Bowling F, Sykut-Cegielska J, Koch D, Ackermann A, Stanley CA, Rymen D, Zeharia A, Al-Sayed M, Marquardt T, Jaeken J, Lefeber D, Conrad DF, Kozicz T, Morava E. Wong SY, et al. J Pediatr. 2016 Aug;175:130-136.e8. doi: 10.1016/j.jpeds.2016.04.021. Epub 2016 May 17. J Pediatr. 2016. PMID: 27206562
Phenotypical spectrum of cerebellar ataxia associated with a novel mutation in the CA8 gene, encoding carbonic anhydrase (CA) VIII.
Kaya N, Aldhalaan H, Al-Younes B, Colak D, Shuaib T, Al-Mohaileb F, Al-Sugair A, Nester M, Al-Yamani S, Al-Bakheet A, Al-Hashmi N, Al-Sayed M, Meyer B, Jungbluth H, Al-Owain M. Kaya N, et al. Am J Med Genet B Neuropsychiatr Genet. 2011 Dec;156B(7):826-34. doi: 10.1002/ajmg.b.31227. Epub 2011 Aug 2. Am J Med Genet B Neuropsychiatr Genet. 2011. PMID: 21812104
Exome sequencing identifies novel NTRK1 mutations in patients with HSAN-IV phenotype.
Altassan R, Saud HA, Masoodi TA, Dosssari HA, Khalifa O, Al-Zaidan H, Sakati N, Rhabeeni Z, Al-Hassnan Z, Binamer Y, Alhashemi N, Wade W, Al-Zayed Z, Al-Sayed M, Al-Muhaizea MA, Meyer B, Al-Owain M, Wakil SM. Altassan R, et al. Am J Med Genet A. 2017 Apr;173(4):1009-1016. doi: 10.1002/ajmg.a.38120. Am J Med Genet A. 2017. PMID: 28328124
Clinical, radiological, and genetic characterization of SLC13A5 variants in Saudi families: Genotype phenotype correlation and brief review of the literature.
AlQudairy H, AlDhalaan H, AlRuways S, AlMutairi N, AlNakiyah M, AlGhofaili R, AlBakheet A, Alomrani A, Alharbi OA, Tous E, AlSayed M, AlZaidan H, AlRasheed MM, AlOdaib A, Kaya N. AlQudairy H, et al. Front Pediatr. 2023 Feb 27;10:1051534. doi: 10.3389/fped.2022.1051534. eCollection 2022. Front Pediatr. 2023. PMID: 36923948 Free PMC article.
Clinical and biochemical features associated with BCS1L mutation.
Al-Owain M, Colak D, Albakheet A, Al-Younes B, Al-Humaidi Z, Al-Sayed M, Al-Hindi H, Al-Sugair A, Al-Muhaideb A, Rahbeeni Z, Al-Sehli A, Al-Fadhli F, Ozand PT, Taylor RW, Kaya N. Al-Owain M, et al. J Inherit Metab Dis. 2013 Sep;36(5):813-20. doi: 10.1007/s10545-012-9536-4. Epub 2012 Sep 19. J Inherit Metab Dis. 2013. PMID: 22991165
145 results