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1993 1
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Page 1
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.
Glycogen storage disease type III diagnosis and management guidelines.
Kishnani PS, Austin SL, Arn P, Bali DS, Boney A, Case LE, Chung WK, Desai DM, El-Gharbawy A, Haller R, Smit GP, Smith AD, Hobson-Webb LD, Wechsler SB, Weinstein DA, Watson MS; ACMG. Kishnani PS, et al. Among authors: el gharbawy a. Genet Med. 2010 Jul;12(7):446-63. doi: 10.1097/GIM.0b013e3181e655b6. Genet Med. 2010. PMID: 20631546 Free article.
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.
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.
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.
Metabolic myopathies: clinical features and diagnostic approach.
Smith EC, El-Gharbawy A, Koeberl DD. Smith EC, et al. Among authors: el gharbawy a. Rheum Dis Clin North Am. 2011 May;37(2):201-17, vi. doi: 10.1016/j.rdc.2011.01.004. Rheum Dis Clin North Am. 2011. PMID: 21444020 Review.
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
30 results