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Impact of citrulline substitution on clinical outcome after liver transplantation in carbamoyl phosphate synthetase 1 and ornithine transcarbamylase deficiency.
Aldrian D, Waldner B, Vogel GF, El-Gharbawy AH, McKiernan P, Vockley J, Landau YE, Al Mutairi F, Stepien KM, Kwok AM, Yıldız Y, Honzik T, Kelifova S, Ellaway C, Lund AM, Mori M, Grünert SC, Scholl-Bürgi S, Zöggeler T, Oberhuber R, Schneeberger S, Müller T, Karall D. Aldrian D, et al. Among authors: el gharbawy ah. J Inherit Metab Dis. 2024 Mar;47(2):220-229. doi: 10.1002/jimd.12717. Epub 2024 Feb 20. J Inherit Metab Dis. 2024. PMID: 38375550
Rescue of glutaric aciduria type I in mice by liver-directed therapies.
Barzi M, Johnson CG, Chen T, Rodriguiz RM, Hemmingsen M, Gonzalez TJ, Rosales A, Beasley J, Peck CK, Ma Y, Stiles AR, Wood TC, Maeso-Diaz R, Diehl AM, Young SP, Everitt JI, Wetsel WC, Lagor WR, Bissig-Choisat B, Asokan A, El-Gharbawy A, Bissig KD. Barzi M, et al. Among authors: el gharbawy a. Sci Transl Med. 2023 Apr 19;15(692):eadf4086. doi: 10.1126/scitranslmed.adf4086. Epub 2023 Apr 19. Sci Transl Med. 2023. PMID: 37075130 Free PMC article.
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Koch RL, Soler-Alfonso C, Kiely BT, Asai A, Smith AL, Bali DS, Kang PB, Landstrom AP, Akman HO, Burrow TA, Orthmann-Murphy JL, Goldman DS, Pendyal S, El-Gharbawy AH, Austin SL, Case LE, Schiffmann R, Hirano M, Kishnani PS. Koch RL, et al. Among authors: el gharbawy ah. Mol Genet Metab. 2023 Mar;138(3):107525. doi: 10.1016/j.ymgme.2023.107525. Epub 2023 Jan 25. Mol Genet Metab. 2023. PMID: 36796138 Review.
A retrospective longitudinal study and comprehensive review of adult patients with glycogen storage disease type III.
Hijazi G, Paschall A, Young SP, Smith B, Case LE, Boggs T, Amarasekara S, Austin SL, Pendyal S, El-Gharbawy A, Deak KL, Muir AJ, Kishnani PS. Hijazi G, et al. Among authors: el gharbawy a. Mol Genet Metab Rep. 2021 Nov 11;29:100821. doi: 10.1016/j.ymgmr.2021.100821. eCollection 2021 Dec. Mol Genet Metab Rep. 2021. PMID: 34820282 Free PMC article.
Glycogen Storage Disease Type I.
Bali DS, El-Gharbawy A, Austin S, Pendyal S, Kishnani PS. Bali DS, et al. Among authors: el gharbawy a. 2006 Apr 19 [updated 2021 Oct 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2006 Apr 19 [updated 2021 Oct 14]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301489 Free Books & Documents. Review.
Nanoparticles of ZnO/Berberine complex contract COVID-19 and respiratory co-bacterial infection in addition to elimination of hydroxychloroquine toxicity.
Ghareeb DA, Saleh SR, Seadawy MG, Nofal MS, Abdulmalek SA, Hassan SF, Khedr SM, AbdElwahab MG, Sobhy AA, Abdel-Hamid ASA, Yassin AM, Elmoneam AAA, Masoud AA, Kaddah MMY, El-Zahaby SA, Al-Mahallawi AM, El-Gharbawy AM, Zaki A, Seif IK, Kenawy MY, Amin M, Amer K, El Demellawy MA. Ghareeb DA, et al. Among authors: el gharbawy am. J Pharm Investig. 2021;51(6):735-757. doi: 10.1007/s40005-021-00544-w. Epub 2021 Sep 6. J Pharm Investig. 2021. PMID: 34513113 Free PMC article.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmüller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM. Murakami Y, et al. Among authors: el gharbawy a. Am J Hum Genet. 2019 Aug 1;105(2):384-394. doi: 10.1016/j.ajhg.2019.05.019. Epub 2019 Jun 27. Am J Hum Genet. 2019. PMID: 31256876 Free PMC article.
Glycogen metabolism and glycogen storage disorders.
Kanungo S, Wells K, Tribett T, El-Gharbawy A. Kanungo S, et al. Among authors: el gharbawy a. Ann Transl Med. 2018 Dec;6(24):474. doi: 10.21037/atm.2018.10.59. Ann Transl Med. 2018. PMID: 30740405 Free PMC article. Review.
Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Kishnani PS, Goldstein J, Austin SL, Arn P, Bachrach B, Bali DS, Chung WK, El-Gharbawy A, Brown LM, Kahler S, Pendyal S, Ross KM, Tsilianidis L, Weinstein DA, Watson MS; ACMG Work Group on Diagnosis and Management of Glycogen Storage Diseases Type VI and IX. Kishnani PS, et al. Among authors: el gharbawy a. Genet Med. 2019 Apr;21(4):772-789. doi: 10.1038/s41436-018-0364-2. Epub 2019 Jan 19. Genet Med. 2019. PMID: 30659246 Free article.
35 results