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Page 1
Primary Carnitine Deficiency.
El-Hattab AW, Almannai M. El-Hattab AW, et al. 2012 Mar 15 [updated 2024 Dec 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2012 Mar 15 [updated 2024 Dec 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 22420015 Free Books & Documents. Review.
Expanding the phenotype of PPP1R21-related neurodevelopmental disorder.
Almannai M, Marafi D, Zaki MS, Maroofian R, Efthymiou S, Saadi NW, Filimban B, Dafsari HS, Rahman F, Maqbool S, Faqeih E, Al Mutairi F, Alsharhan H, Abdelaty O, Bin-Hasan S, Duan R, Noureldeen MM, Alqattan A, Houlden H, Hunter JV, Posey JE, Lupski JR, El-Hattab AW. Almannai M, et al. Among authors: el hattab aw. Clin Genet. 2024 Jun;105(6):620-629. doi: 10.1111/cge.14492. Epub 2024 Feb 14. Clin Genet. 2024. PMID: 38356149
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease.
Husain RA, Jiao X, Hennings JC, Giesecke J, Palsule G, Beck-Wödl S, Osmanović D, Bjørgo K, Mir A, Ilyas M, Abbasi SM, Efthymiou S, Dominik N, Maroofian R, Houlden H, Rankin J, Pagnamenta AT, Nashabat M, Altwaijri W, Alfadhel M, Umair M, Khouj E, Reardon W, El-Hattab AW, Mekki M, Houge G, Beetz C, Bauer P, Putoux A, Lesca G, Sanlaville D, Alkuraya FS, Taylor RW, Mentzel HJ, Hübner CA, Huppke P, Hart RP, Haack TB, Kiledjian M, Rubio I. Husain RA, et al. Among authors: el hattab aw. Brain. 2024 Apr 4;147(4):1197-1205. doi: 10.1093/brain/awad434. Brain. 2024. PMID: 38141063 Free PMC article.
SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria.
El-Hattab AW, Scaglia F. El-Hattab AW, et al. 2009 May 26 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2009 May 26 [updated 2023 Sep 28]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301762 Free Books & Documents. Review.
Cerebral folate deficiency: A report of two affected siblings.
Almahmoud R, Mekki M, El-Hattab AW. Almahmoud R, et al. Among authors: el hattab aw. Mol Genet Metab Rep. 2023 Apr 12;35:100975. doi: 10.1016/j.ymgmr.2023.100975. eCollection 2023 Jun. Mol Genet Metab Rep. 2023. PMID: 37101857 Free PMC article.
Deoxyguanosine Kinase Deficiency.
El-Hattab AW, Scaglia F. El-Hattab AW, et al. 2009 Jun 18 [updated 2023 Feb 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2009 Jun 18 [updated 2023 Feb 9]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301766 Free Books & Documents. Review.
125 results