| 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 |
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