Trabajos Orales Errores Innatos del Metabolismo

Orden Título Autores País Tema Acceder al Abstract

Sesión I - Comunicaciones Orales. Lunes 13 de Mayo. Salón Pacífico. 16:30 - 17:30 hs.

O-001 INHIBITORS OF C-ABL KINASE FOR THE TREATMENT OF THE NEURODEGENERATIVE NIEMANN-PICK TYPE A DISEASE Zanlungo S
Marín T
De la Fuente C
Acuña M
Castro J
Cortés C
Marugan J
Dulcey A
Gorshkov K
Zheng W
Chile Lysosomal disorders pdf icon
O-002 IN VITRO REDUCTION OF LYSOSOMAL GANGLIOSIDE ACCUMULATION BY RECOMBINANT HUMAN BETA-HEXOSAMINIDASE PRODUCED IN PICHIA PASTORIS Espejo-Mojica AJ
Vu M
Rodríguez-López A
Beltrán L
Díaz D
Mosquera A
Li R
Zheng W
Alméciga-Díaz CJ
Colombia Lysosomal disorders pdf icon
O-003 EVALUATION OF THE FREQUENCY OF NON-MOTOR SYMPTOMS OF PARKINSON’S DISEASE IN ADULT PATIENTS WITH GAUCHER DISEASE TYPE 1 Matheus VMB Wilke
Alícia D Dornelles
Artur S Schuh
Filippo P Vairo
Suelen P Basgalupp
Marina Siebert
Tatiele Nalin
Otavio B Piltcher
Ida VD Schwartz
Brasil Lysosomal disorders pdf icon
O-004 CELL-DELIVERED AND LYSOSOMAL-ACCUMULATION REDUCTION BY GLYCOENGINEERED N-ACETYLGALACTOSAMINE-6-SULFATE SULFATASE (GALNS) FOR MORQUIO A DISEASE TREATMENT Rodríguez-López A
Alméciga-Díaz CJ
Gorshkov K
Li R
Zheng W
Callewaert N
Colombia Lysosomal disorders pdf icon

Sesión II - Comunicaciones Orales. Martes 14 de Mayo. Salón Pacífico. 11:15 - 12:15 hs.

O-005 NATURAL HISTORY OF TYPE IX GLYCOGEN STORAGE DISEASE: A BRAZILIAN MULTICENTRIC STUDY Oliveira BM
Tonon T
dos Santos BB
Refosco LF
Sperb-Ludwig F
Correia PS
Souza CFM
Schwartz IVD
Brasil Carbohydrate disorders pdf icon
O-006 DESCRIPTION OF THE PRESENTATION, NEUROLOGICAL OUTCOME AND MORTALITY OF THE UREA CYCLE DISORDER IN 41 PATIENTS DIAGNOSED AT GARRAHAN HOSPITAL. Bernal A C
Tubio M C
Crespo C
Eiroa H
Argentina Urea cycle disorders pdf icon
O-007 GROWTH PATTERNS OF PKU PATIENTS IN THE FIRST YEARS OF LIFE Poloni S
Monteiro V
Refosco LF
Schwartz IVD
Brasil Phenylketonuria  pdf icon
O-008 TARGETED METABOLOMICS ANALYSIS FOR PROPIONATE METABOLISM DISORDERS Ibarra-Gonzalez I
Vela-Amieva M
Belmont-Martinez L
Fernandez-Lainez C
Guillen-Lopez S
Lopez-Mejia L
México Organic acidurias: branched-chain pdf icon

Sesión III - Comunicaciones Orales. Martes 14 de Mayo. Salón Pacífico. 17:00 - 18:00 hs.

O-009 PEDIATRIC LIVER TRANSPLANTATION FOR INBORN ERRORS OF METABOLISM Cañón IC
Dip M
Minetto MJ
Jacobo MA
Eiroa H
Malla I
Aredes D
Halac E
Cervio G
Imventarsa O
Argentina Miscellaneous pdf icon
O-010 GENETIC DIAGNOSIS AND GENOTYPE-PHENOTYPE ASSOCIATION IN 113 BRAZILIAN INDIVIDUALS WITH REDUCED BIOTINIDASE ACTIVITY Randon DN
Borsatto T
Sperb-Ludwig F
Carvalho de Andrade MDF
Ribeiro E
Medeiros P
Félix TM
Pinto LLC
de Souza CFM
Schwartz IVD
Brasil Organic acidurias: others pdf icon
O-011 PHASE 2/3 TRIAL TO ASSESS THE SAFETY AND EFFICACY OF LENTI-D HEMATOPOIETIC STEM CELL GENE THERAPY FOR CEREBRAL ADRENOLEUKODYSTROPHY Amartino H
Eichler F
Orchard PJ
De Oliveira S
Thrasher AJ
Smith N
Chin W
McNeil E
Aubourg P
Williams DA
Argentina ADL: Peroxissomal  pdf icon
O-012 OUR EXPERIENCE WITH GLYCOSYLATION DISORDERS AFTER STARTING WITH SCREENING AND MOLECULAR STUDIES AT THE NATIONAL NEWBORN SCREENING LABORATORY Audicio P
Mendez S
González G
Cerisola A
Queijo A
Lemes A
Uruguay Glycosylation disorders/CDG, protein modification disorders pdf icon