Works matching Glycogen storage disease type I

Results: 135
    1

    Glycogen storage disease type I: clinical and laboratory profile.

    Published in:
    Jornal de Pediatria, 2014, v. 90, n. 6, p. 572, doi. 10.1016/j.jped.2014.02.005
    By:
    • Santos, Berenice L.;
    • de Souza, Carolina F. M.;
    • Schuler-Faccini, Lavinia;
    • Refosco, Lilia;
    • Epifanio, Matias;
    • Nalin, Tatiele;
    • Vieira, Sandra M. G.;
    • Schwartz, Ida V. D.
    Publication type:
    Article
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    Identification of differentially expressed microRNAs in human hepatocellular adenoma associated with type I glycogen storage disease: a potential utility as biomarkers.

    Published in:
    Journal of Gastroenterology, 2014, v. 49, n. 8, p. 1274, doi. 10.1007/s00535-013-0890-2
    By:
    • Chiu, Li-Ya;
    • Kishnani, Priya;
    • Chuang, Tzu-Po;
    • Tang, Cheng-Yang;
    • Liu, Cheng-Yuan;
    • Bali, Deeksha;
    • Koeberl, Dwight;
    • Austin, Stephanie;
    • Boyette, Keri;
    • Weinstein, David;
    • Murphy, Elaine;
    • Yao, Adam;
    • Chen, Yuan-Tsong;
    • Li, Ling-Hui
    Publication type:
    Article
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    Glikojen depo tip 1a ve tip 1b olgular.

    Published in:
    Türk Pediatri Arşivi, 2013, v. 48, n. 2, p. 117, doi. 10.4274/tpa.185
    By:
    • Tuba Eminoğlu, Fatma;
    • Tümer, Leyla;
    • Okur, İlyas;
    • Süheyl Ezgü, Fatih;
    • Hasanoğlu, Alev
    Publication type:
    Article
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    Progressive development of renal cysts in glycogen storage disease type I.

    Published in:
    Human Molecular Genetics, 2016, v. 25, n. 17, p. 3784, doi. 10.1093/hmg/ddw224
    By:
    • Gjorgjieva, Monika;
    • Raffin, Margaux;
    • Duchampt, Adeline;
    • Perry, Ariane;
    • Stefanutti, Anne;
    • Brevet, Marie;
    • Tortereau, Antonin;
    • Dubourg, Laurence;
    • Hubert-Buron, Aurélie;
    • Mabille, Mylène;
    • Pelissou, Coralie;
    • Lassalle, Louis;
    • Labrune, Philippe;
    • Mithieux, I. Gilles;
    • Rajas, Fabienne
    Publication type:
    Article
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    Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0301-2
    By:
    • Melis, Daniela;
    • Rossi, Alessandro;
    • Pivonello, Rosario;
    • Salerno, Mariacarolina;
    • Balivo, Francesca;
    • Spadarella, Simona;
    • Muscogiuri, Giovanna;
    • Casa, Roberto Della;
    • Formisano, Pietro;
    • Andria, Generoso;
    • Colao, Annamaria;
    • Parenti, Giancarlo
    Publication type:
    Article
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    Challenges for achieving safe and effective radical cure of Plasmodium vivax: a round table discussion of the APMEN Vivax Working Group.

    Published in:
    Malaria Journal, 2017, v. 16, p. 1, doi. 10.1186/s12936-017-1784-1
    By:
    • Thriemer, Kamala;
    • Ley, Benedikt;
    • Bobogare, Albino;
    • Dysoley, Lek;
    • Alam, Mohammad Shafiul;
    • Pasaribu, Ayodhia P.;
    • Sattabongkot, Jetsumon;
    • Jambert, Elodie;
    • Domingo, Gonzalo J.;
    • Commons, Robert;
    • Auburn, Sarah;
    • Marfurt, Jutta;
    • Devine, Angela;
    • Aktaruzzaman, Mohammad M.;
    • Sohel, Nayeem;
    • Namgay, Rinzin;
    • Drukpa, Tobgyel;
    • Sharma, Surender Nath;
    • Sarawati, Elvieda;
    • Samad, Iriani
    Publication type:
    Article
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    Safety and Efficacy of DTX401, an AAV8‐Mediated Liver‐Directed Gene Therapy, in Adults With Glycogen Storage Disease Type I a (GSDIa).

    Published in:
    Journal of Inherited Metabolic Disease, 2025, v. 48, n. 2, p. 1, doi. 10.1002/jimd.70014
    By:
    • Weinstein, David A.;
    • Derks, Terry G.;
    • Rodriguez‐Buritica, David F.;
    • Ahmad, Ayesha;
    • Couce, María‐Luz;
    • Mitchell, John J.;
    • Riba‐Wolman, Rebecca;
    • Mount, Malaya;
    • Sallago, Julieta Bonvin;
    • Ross, Katalin M.;
    • van der Klauw, Melanie M.;
    • de Boer, Foekje;
    • van der Schaaf, Caroline;
    • Saavedra, Heather;
    • Martínez‐Olmos, Miguel;
    • Atanga, Elvis;
    • Hosseini, Asad;
    • Mitragotri, Deepali;
    • Crombez, Eric
    Publication type:
    Article