APROVADOS - Pôster


NÚMERO TÍTULO AUTOR
01 WHOLE EXOME SEQUENCING FOR ASSESSMENT OF UNCLASSIFIED GLYCOGEN STORAGE DISEASES  AND DISORDERS OF ENERGY METABOLISM Corbinian N. Wanner, Uyen T. Doan, Monika Dambska, Kathryn R. Dahlberg, Ana Estrella, Young Mok Lee, Patrick T. Ryan, David A. Weinstein
02

NATURAL HISTORY OF PAEDIATRIC PATIENTS WITH GLYCOGEN STORAGE DISEASE TYPE 1B IN ENGLAND: RESULTS OF A MULTI-SITE SURVEY

Rebecca Kylie Halligan, Fiona White, Nazreen Banu Kamarus Jaman, M McSweeney, Steven Kitchen, Bernd Schwahn, Helen Mundy, Saikat Santra
03 Interventions and outcomes in Adult GSD III: a three centre study in collaboration with Association for Glycogen Storage Disease (AGSD-UK)  Alison Woodall, Louise V Robertson, Charlotte Dawson, Rahda Ramachandran, Diane Green, Allan Muir, Reena Sharma
04 FREQUENCY OF RS2229611 SNP IN 3’UTR OF G6PC IN BRAZILIAN PATIENTS WITH GLYCOGENOSIS TYPE IA. Franciele Cabral Pinheiro, Fernanda Sperb-Ludwig, Carolina Fishinger Moura De Souza, Ida Vanessa Doederlein Schwartz
05 CRISPR/CAS9-MEDIATED EDITING OF HEPATIC G6PC IN MICE ALLOWS TO INVESTIGATE THE CLINICAL SPECTRUM OF GLYCOGEN STORAGE DISEASE TYPE IA  Martijn GS Rutten, Nicolette CA Huijkman, Trijnie Bos, Niels J Kloosterhuis, Rachel Thomas, Alain de Bruin, Bart van de Sluis, Maaike H Oosterveer
06 DISEASE BURDEN AND UNMET NEEDS IN POMPE DISEASE: RESULTS FROM A PATIENT SURVEY IN THE UNITED KINGDOM  Jacqueline Adam, Nina Patel, Jenny Wilson
07 CLINICAL AND MOLECULAR CHARACTERISTICS OF FRUCTOSE 1,6 BISPHOSPHATASE DEFICIENCY (FBP1D) PATIENTS IN ISRAEL- for poster presentation Zehavi Yoav, Avraham Zeharia, Galit Tal, Hanna Mandel, Ben Pode-Shakked, Ronen Spiegel
08 Fibroblast growth factor 21 (FGF21) is a novel sensitive biomarker for the diagnosis and control of hepatic glycogenoses- for poster presentation Yoav Zehavi, Nachshon Buchsetav, Ann Saada, Ronen Spiegel
09 LIVER TRANSPLANT FOR GLYCOGEN STORAGE DISEASE TYPE IIIA: A CASE REPORT Tatiele Nalin, Bibiana Mello de Oliveira, Karina Colonetti, Rafael de Marchi, Vaneisse L Monteiro, Matheus T Michalczuk, Carolina F M de Souza, Mario R A da Silva, Ida V D Schwartz 
10 HEPATIC NON-GSD-IB: IS THE IMMUNE SYSTEM CHALLENGED BY THE METABOLIC DEFECT? Karina Colonetti, Filippo Pinto Vairo, Marina Siebert, Tatiele Nalin, Soraia Poloni, Luiz Fernando Wurdig Roesch, Carolina F M de Souza, Ida Vanessa Doederlein Schwartz
11 PRECLINICAL DEVELOPMENT OF SPK-3006, AN INVESTIGATIONAL LIVER-DIRECTED AAV GENE THERAPY FOR THE TREATMENT OF POMPE DISEASE Sean M Armour, Jayme ML Nordin, Helena Costa Verdera, Daniel M Cohen, Pauline Sellier, Marco Crosariol, Fanny Collaud, Christopher Riling, William J Quinn III, Hayely Hanby, Umut Cagin , Francesco Puzzo, Virginia Haurigot, Giuseppe Ronzitti, Pasqualina Colelle, Xavier M Anguela, Federico Mingozzi
12 HEPCIDIN, INTERLEUKIN-6 LEVELS AND IRON METABOLISM PARAMETERS IN PATIENTS WITH HEPATIC GLYCOGEN STORAGE DISEASES Tatiele Nalin, Tatiele Nalin, Fernanda Sperb-Ludwig, Fernanda Sperb-Ludwig, Marina Siebert, David A Weinstein, David A Weinstein, Terry G J Derks, Terry G J Derks, Carolina FM de Souza , Carolina FM de Souza, Ida V D Schwartz, Ida V D Schwartz
13 THE COEXISTENCE OF GLYCOGEN STORAGE DISEASE TYPE 0 AND LIMB-GIRDLE MUSCULAR DYSTROPHY IN A PATIENT Jokasta Sousa Rocha, Isadora Moraes Mundim Prado, Luiz Roberto da Silva
14 INFLAMMATORY BOWEL DISEASE IN NON-IB HEPATIC GLYCOGEN STORAGE DISEASES: A CASE SERIES BIBIANA MELLO OLIVEIRA, VANEISSE LIMA MONTEIRO, MARIANA SCORTEGAGNA, FERNANDA SPERB-LUDWIG, KARINA COLONETTI, BRUNA BENTO dos SANTOS, LILIA FARRET REFOSCO, RODRIGO REZENDE ARANTES, JOSÉ SIMON CAMELO, CAROLINA FISCHINGER MOURA de SOUZA, IDA VANESSA DOEDERLEIN SCHWARTZ
15 HEPATIC GLYCOGEN STORAGE DISEASES: ANTHROPOMETRIC CHARACTERIZATION AT BIRTH AND AT THE BEGINNING OF TREATMENT Vaneisse Cristina Lima Monteiro, Bibiana Mello de Oliveira, Mariana L Scortegagna, Soraia Poloni, Bruna Bento dos Santos, Fernanda Sperb-Ludwig, Lilia Farret Refosco, Carolina Fischinger Moura de Souza, Ida Vanessa Doederlein Schwartz 
16 FANCONI BICKEL SYNDROME. FIRST CASE REPORTED IN URUGUAY. Aida Lemes, Cristina Zabala, Mariana Castro, Maria Laura Fernández, Andrea Ponce de León
17 BONE MINERAL DENSITY AND BONE TURNOVER MARKERS IN PATIENTS WITH HEPATIC GLYCOGEN STORAGE DISEASES Jésica Tamara Jacoby, Bruna Bento Santos, Tatiéle Nalin, Lilia Farret Refosco, Carolina Fischinger Souza, Poli Mara Spritzer, Soraia Polini, Roberta Hack Mendes, Ida Vanessa Doederlein Schwartz
18 PSEUDODEFICIENCY IN GLYCOGEN STORAGE DISEASE TYPE II: THE NEED OF ALLELE FREQUENCY STUDIES IN BRAZILIAN POPULATION Diana Málaga, Ana Carolina Brusius-Facchin, Ana Karolina Andrade, Bibiana Mello Oliveira, Temis Maria Félix, Kristiane Michelin-Tirelli, Jaqueline Schulte, Jamile Pereira, Eurico Camargo Neto, Carolina Fischinger Moura de Souza, Roberto Giugliani 
19 A RETROSPECTIVE COHORT STUDY ON B12 LEVELS IN HEPATIC  GLYCOGEN STORAGE DISEASES Vaneisse Cristina Lima Monteiro, Bibiana Mello Oliveira, Mariana L Scortegagna, Soraia Poloni, Fernanda Sperb-Ludwig, Bruna Bento dos Santos, Lilia Farret Refosco, Carolina Fischinger Moura de Souza, Ida Vanessa Doederlein Schwartz
20 ASYMPTOMATIC FAMILY WITH LATE ONSET POMPE DISEASE: AN UNEXPECTED DIAGNOSIS Márcia Gonçalves Ribeiro
21 ALGLUCOSIDASE ALFA ENZYME REPLACEMENT THERAPY IN EARLY AND LATE-ONSET POMPE DISEASE: A SYSTEMATIC LITERATURE REVIEW Ana Paula Pedroso Junges, Alícia Dorneles Dornelles, Ida Vanessa Doederlein Schwartz, Haliton Alves de Oliveira Júnior, Bárbara Krug, Candice Gonçalves, Luciana Rizzon
22 GLIOMA IN GLYCOGEN STORAGE DISEASE TYPE IA: CORRELATION OR SPURIOUS ASSOCIATION? Mariana Lima Scortegagna, Bibiana Mello de Oliveira, Vaneisse Cristina Lima Monteiro, Sperb-Ludwig Fernanda, Lília Farret Refosco, Carolina Fischinger Moura de Souza, Ida Vanessa Doederlein Schwartz
23 GLYCOGEN STORAGE DISEASE DIAGNOSIS OF TWO PATIENTS BY NEXT GENERATION SEQUENCING  Louise Lapagesse Camargo Pinto, Marileise Santos Obelar, Gisele Rosone Luca, Francisca Ligia Cirilo Carvalho, Izabella Zacarias, Ida Vanessa Doederlein Schwartz, Carolina Fischinger Moura Souza, Fernanda Sperb-Ludwig
24 LIVER TRANSPLANTATION IN HEPATIC GLYCOGEN STORAGE DISEASES: CASE SERIES STUDY FROM A REFERENCE CENTRE FOR RARE DISEASES IN SOUTHERN BRAZIL MARIANA SCORTEGAGNA, BIBIANA MELLO OLIVEIRA, VANEISSE LIMA MONTEIRO, LILIA FARRET REFOSCO, CAROLINA FISCHINGER MOURA de SOUZA, IDA VANESSA DOEDERLEIN SCHWARTZ
25 NON-VIRAL AGL GENE DELIVERY AS A POSSIBLE THERAPEUTIC APPROACH FOR GLYCOGEN STORAGE DISEASE TYPE III (GSDIII)  Doriana Triggiani
26 LYSINURIC PROTEIN INTOLERANCE AS A DIFFERENTIAL DIAGNOSIS OF GLYCOGEN STORAGE DISEASES: AN ILLUSTRATIVE CASE REPORT BIBIANA M OLIVEIRA, VANEISSE L MONTEIRO, BRUNA B DOS SANTOS, LILIA F REFOSCO, IDA V D SCHWARTZ, CAROLINA FISCHINGER MOURA de SOUZA