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Two patients with Canavan disease and structural modeling of a novel mutation.
Zaki OK, Krishnamoorthy N, El Abd HS, Harche SA, Mattar RA, Al Disi RS, Nofal MY, El Bekay R, Ahmed KA, George Priya Doss C, Zayed H. Zaki OK, et al. Metab Brain Dis. 2017 Feb;32(1):171-177. doi: 10.1007/s11011-016-9896-9. Epub 2016 Aug 17. Metab Brain Dis. 2017. PMID: 27531131
Genotype-phenotype correlation of 33 patients with maple syrup urine disease.
Khalifa OA, Imtiaz F, Ramzan K, Zaki O, Gamal R, Elbaik L, Rihan S, Salam E, Abdul-Mawgoud R, Hassan M, Hassan N, Saleh E, Seoudi D, Moustafa AS. Khalifa OA, et al. Am J Med Genet A. 2020 Nov;182(11):2486-2500. doi: 10.1002/ajmg.a.61806. Epub 2020 Aug 19. Am J Med Genet A. 2020. PMID: 32812330
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