APROVADOS - Comunicações Orais


ID TÍTULO AUTOR
2462 FIRST-IN-HUMAN STUDY OF ATB200/AT2221 IN PATIENTS WITH POMPE DISEASE: 24-MONTH FUNCTIONAL ASSESSMENT RESULTS FROM THE ATB200-02 TRIAL Priya Kishnani, Benedikt Schoser, Drago Bratkovic, Barry J Byrne, Paula R. Clemens, Xue Ming, Peter Schewenkreis, Kumaraswamy Sivakumar, Jay A. Barth, Tahseen Mozaffar
2463 LNP-HAGL MRNA REDUCED LIVER GLYCOGEN ACCUMULATION AND DECREASED HEPATIC HYPERTROPHY IN A MOUSE MODEL OF GLYCOGEN STORAGE DISEASE III Arjun Natesan, Tim Wong, Kai-Ming Lu, Marcus Andrews, Pei-Chun Tsai, Mike Machado, Patty Limphong, Yanjie Bao, Daiki Matsuda, Jer-Yuarn Wu
2472 ANALYSIS OF THE IMPACT OF GLYCOGEN STORAGE DISEASE TYPE IX-ALPHA MUTATIONS ON CLINICAL SYMPTOMATOLOGY Corbinian N. Wanner, Patrick T. Ryan, David A. Weinstein
2476 RESEARCH PRIORITIES FOR LIVER GLYCOGEN STORAGE DISEASE:  AN INTERNATIONAL PRIORITY SETTING PARTNERSHIP WITH THE JAMES LIND ALLIANCE Fabian Peeks, Willemijn F Boonstra, Camilla Carøe, Thomas Casswall, Damian Cohen, Katherine Cowan, Iris Ferrecchia, Alberto Ferriani, David A Weinstein, Terry G J Derks
2483 FUNCTIONAL AND METABOLIC ANALYSIS OF GLYCOGEN STOREAGE DISEASE TYPE IB MACROPHAGE Young Mok Lee, Eek Hyung Jeon, David A Weinstein, Hyun Sik Jun
2484 FASTING HYPOGLYCEMIA AGGRAVATES DYSLIPIDEMIA IN GSDIA MICE VIA ENHANCED ADIPOCYTE LIPOLYSIS AND IMPAIRED VLDL CATABOLISM Joanne A Hoogerland, Fabian Peeks, Brenda S Hijmans, Justina C Wolters, Sander Kooijman, Trijnie Bos, Aycha Bleeker, Theo H van Dijk, Terry GJ Derks, Maaike H Oosterveer
2537 DIETARY LIPIDS IN HEPATIC GLYCOGEN STORAGE DISEASES: A SYSTEMATIC LITERATURE STUDY, CASE STUDIES AND FUTURE RECOMMENDATIONS Alessandro Rossi, Irene J Hoogeveen, Vanessa B Bastek, Foekje de Boer, Chiara Montanari, Uta Meyer, Arianna Maiorana, Andrea Bordugo, Alice Dianin, Silvia Bernabei, Carmen Campana, Miriam Rigoldi, Priya Sunil Kishnani, Surekha Pendyal, Pietro Strisciuglio, Serena Gasperini, Giancarlo Parenti, Carlo Dionisi-Vici, Rossella Parini, Sabrina Paci, Daniela Melis, Terry G J Derks
2538 MEASURING BODY COMPOSITION IN PATIENTS WITH HEPATIC GLYCOGEN STORAGE DISEASES BY DUAL ENERGY X-RAY ABSORPTIOMETRY Bruna Bento dos Santos, Karina Colonetti, Tatiele Nalin, Bibiana Mello de Oliveira, Carolina Fischinger Moura de Souza, Poli Mara Spritzer, Ida Vanessa Doederlein Schwartz
2539 A NEW IMAGE-BASED HIGH THROUGHPUT SCREENING ASSAY DISCOVERS A POTENT LEAD COMPOUND FOR THE TREATMENT OF GLYCOGEN STORAGE DISORDERS Miguel Weil 
2543 STEAROYL-COA DESATURASE INDICES AND BODY COMPOSITION OF BRAZILIAN PATIENTS WITH GLYCOGEN STORAGE DISEASES Soraia Poloni, Dora Lucía Vallejo-Ardila, Vaneisse Monteiro, Sarah C. Grünert, Sara Tucci, David A. Weinstein, Carolina F.M. de Souza, Bruna B. dos Santos, Kamila C. Grokoski, Ida Vanessa D. Schwartz
2544 LIVER METABOLIC ABNORMALITIES AND GENE EXPRESSION VARIANCE IN THE KETOTIC FORMS OF GLYCOGEN STORAGE DISEASES  Lane H Wilson, Ana Estrella, Junho Cho, David A Weinstein, Young Mok Lee
2569 HEPATIC GLYCOGEN STORAGE DISEASE: DOES THE GENETIC DIAGNOSIS CONFIRM THE DIAGNOSIS BASED ON CLINICAL AND BIOCHEMICAL MANIFESTATIONS? Rafael de Marchi, Tatiele Nalin, Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz, Carlos Eduardo Steiner
2789 OROFACIAL MYOFUNCTIONAL ASPECTS AND FEEDING DIFFICULTIES IN HEPATIC GLYCOGEN STORAGE DISEASES Chenia Caldeira Martinez, Tassia Tonon, Tatiéle Nalin, Lilia Farret Refosco, Carolina Fischinger Moura de Souza, Ida Vanessa Doederlein Schwartz