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Wednesday, May 4th - Nutrition Pre-Congress Workshop
Nutrition Pre-Congress Workshop
Salón Avalon A
| Morning Nutrition | Moderator: Carolina De Souza (Brazil) / Verónica Cornejo (Chile) | ||||
| Starts | Ends | Ativity | Dration | Title / Speaker | |
| 09:00 | 12:50 | Pre-Congress Workshop Nutrition | 03:50 | ||
| 09:00 | 09:10 | Welcome | 00:10 | Welcome Carolina Fischinger Moura de Souza (Brazil) |
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| 09:10 | 09:35 | Lecture 1 | 00:25 | Advances in the treatment of mitochondrial fatty acid oxidation defects (FAO) Deborah Marsden (USA) |
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| 09:35 | 10:00 | Lecture 2 | 00:25 | Ketogenic diets in IEM: To whom, how and how much? Soraia Poloni (Brazil) |
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| 10:00 | 10:25 | Lecture 3 | 00:25 | Maintaining normal nutritional status in IEM: preventing deficiencies and malnutrition Lizbeth López (Mexico) |
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| 10:25 | 10:45 | Questions | 00:20 | ||
| 10:45 | 11:15 | Coffee Break | 00:30 | ||
| 11:15 | 11:40 | Lecture 4 | 00:25 | Clinical presentation and management of urea cycle disorders (UCD) Marshall Summar (USA) |
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| 11:40 | 12:05 | Lecture 5 | 00:25 | Diagnosis and treatment of maple syrup urine disease (MSUD) Florencia Salazar (Chile) |
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| 12:05 | 12:30 | Lecture 6 | 00:25 | Adherence to dietary therapy in IEM Ida Schwartz (Brazil) |
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| 12:30 | 12:50 | Questions and Conclusions | 00:20 | ||
| 12:50 | 14:00 | Lunch | 01:10 | ||
| Nutriion - Afternoon | Moderate: Carolina De Souza | ||||
| Starts | Ends | Activity | Duration | Title / Speaker | |
| 14:00 | 17:20 | CCurso Pre-Congreso Nutrición | 03:20 | Wokshop: MSUD y UCD | |
| 14:00 | 14:20 | Lecture 7 | 00:20 | Guidelines for the treatment of MSUD Valerie Hamilton (Chile) |
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| 14:20 | 14:25 | Clinical Case | 00:05 | Case report 1: Newborn with MSUD and a metabolic decompensation Marcela Vela / Lizbeth López (Mexico) |
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| 14:25 | 14:45 | Wokshop | 00:20 | Guided group discussion Valerie Hamilton / Florencia Salazar (Chile) |
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| 14:45 | 15:05 | Wokshop | 00:20 | Proposal | |
| 15:05 | 15:25 | Wokshop | 00:20 | Evidence based conclusions Florencia Salazar (Chile) / Lizbeth López (Mexico) |
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| 15:25 | 15:55 | Coffee Break | 00:30 | ||
| 15:55 | 16:15 | Wokshop | 00:20 | Guidelines for the treatment of UCD Carolina Souza (Brasil) |
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| 16:15 | 16:20 | Clinical Case | 00:05 | Case report 2: Acute management in primary hyperammonemia Carolina Souza (Brazil) / Valerie Hamilton (Chile) |
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| 16:20 | 16:40 | Wokshop | 00:20 | Guided group discussion Marcela Vela / Lizbeth López (Mexico) |
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| 16:40 | 17:00 | Wokshop | 00:20 | Proposal | |
| 17:00 | 17:20 | Wokshop | 00:20 | Evidence based conclusions Carolina De Souza (Brazil) / Marcela Vela (Mexico) |
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Congress Opening
Salón Fillmore A
| Starts | Ends | Activity | Duration | Title | Speaker |
| 18:30 | 19:15 | Opening Ceremony | 00:45 | ||
| 19:15 | 20:00 | Opening Lecture | 00:45 | Genomic Newborn Screening: a new paradigm in the near future? | Belén Pérez (Spain) Moderadora: Ceila Pérez |
Wednesday, May 4th - Newborn Screening Pre-Congress Workshop
Newborn Screening Pre-Congress Workshop
Salon Fillmore A
| Pesquisa Neonatal - Mañana | Coordinators: Ernesto González / Gustavo Borrajo | ||||
| Starts | Ends | Activiy | Duration | Tittle / Speakers | |
| 09:30 | 14:30 | Newborn Screening Pre-Congress Symposium | 05:00 | ||
| 09:30 | 09:45 | Welcome | 00:15 | ||
| 09:45 | 10:15 | Lecture 1 | 00:30 | The Newborn Screening Pathway Veronica Wiley (Australia) |
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| 10:15 | 10:45 | Lecture 2 | 00:30 | Public health view of NBS - sensitivity, specificity, PPV, importance of definitions and target population. Enzo Ranieri (Australia) |
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| 10:45 | 11:15 | Lecture 3 | 00:30 | How to decide an appropriate disorders panel to screen?. Marcela Vela (Mexico) |
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| 11:15 | 11:45 | Lecture 4 | 00:30 | How to get better NBS outcomes and monitor them? - from sample collection to diagnostic confirmation, treatment and follow-up Tania Marini (Brazil) |
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| 11:45 | 12:00 | Questions | 00:15 | ||
| 12:00 | 12:30 | Coffee Break | 00:30 | ||
| 12:30 | 13:00 | Lecture 5 | 00:30 | Choosing the right test and right algorithm - considerations for developing programmes Raquel Yahyaoui (Spain) |
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| 13:00 | 13:30 | Lecture 6 | 00:30 | Cutoff values definition: a critical variable for the reliability of the detection system Gustavo Borrajo (Argentina) |
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| 13:30 | 14:00 | Lecture 7 | 00:30 | Preanalytical and Analytical variables than can affect the NBS results reliability Ernesto González (Cuba) |
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| 14:00 | 14:15 | Questions / Closing Remarks | 00:15 | ||
| 14:15 | 14:30 | Closing Remarks | 00:15 | ||
| 14:30 | 17:00 | Opening Lecture | 02:30 | ||
Congress Opening
Salón Fillmore A
| Starts | Ends | Activity | Duration | Title | Speaker |
| 18:30 | 19:15 | Opening Ceremony | 00:45 | ||
| 19:15 | 20:00 | Opening Lecture | 00:45 | Genomic Newborn Screening: a new paradigm in the near future? | Belén Pérez (Spain) Moderadora: Ceila Pérez |
Thursday May 5th
| Mañana | |||||||
| Starts | Ends | Activity | Duration | Tittle / Speaker | |||
| 08:00 | 09:45 | Plenary Session I | 01:45 | Salón Fillmore A Inborn errors of metabolism and neonatal screening in the era of "omics" Coordinators: Aída Lemes (Uruguay) / José Abdenur (Argentina) |
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| 08:00 | 08:30 | Plenary Lecture 1 | 00:30 | ¿Should we extend newborn screening in the era of multi-omics? Eva Morava (USA) |
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| 08:30 | 09:00 | Plenary Lecture 2 | 00:30 | New "omics" methodologies in the laboratory of inborn errors of metabolism Antonia Ribes (Spain) |
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| 09:00 | 09:30 | Plenary Lecture 3 | 00:30 | Importance of proteomics in the study of inborn errors of metabolism María Luz Couce (Spain) |
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| 09:30 | 09:45 | Questions | 00:15 | ||||
| 09:45 | 10:15 | Coffee Break and Posters Viewing | 00:30 | ||||
| Salón Fillmore A: IEM | Salón Avalon A: Newborn Screening | ||||||
| 10:15 | 12:00 | Simultaneous Session I | 01:45 | New therapies for inborn errors of metabolism Coordinators: Laura Larovere (Argentina) |
Newborn Screening: considerations for its implementation/An update in Hemoglobinopathies and G6PD Deficiency Coordinator: Graciela Queiruga (Uruguay) |
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| 10:15 | 10:45 | Lecture 1 | 00:30 | Perspectives in the study of mitochondrial diseases Tamas Kozicz (USA) |
Newborn Screening Programs: development and implementation Susan Berry (USA) |
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| 10:45 | 11:15 | Lecture 2 | 00:30 | mRNA treatment of methylmalonic acidemia Gerard T Berry (USA) |
An update on NBS for haemoglobinopathies in Central America and the Caribbean Beatriz Marcheco-Teruel (Cuba) |
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| 11:15 | 11:45 | Lecture 3 | 00:30 | Beyon Enzyme Replacement Treatment in LSD Antonio Gonzalez-Meneses (Spain) |
Newborn Screening for glucose-6 phosphate dehydrogenase deficiency Juliana Thomas (Brazil) |
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| 11:45 | 12:00 | Questions | 00:15 | ||||
| 12:00 | 13:30 | Lunch | 01:30 | Industry Lunch (12 to 13 hs) | |||
| Tarde | |||||||
| Starts | Ends | Activity | Duration | Tittle / Speaker | Tittle / Speaker | ||
| Salón Fillmore A: IEM | Salón Avalon A: Newborn Screening | ||||||
| 13:30 | 15:00 | Simultaneous Session II | 01:30 | Advances in the study of IEMs Coordinator: José Sotillo (Panamá) |
Recent Developments in NBS by MS/MS Coordinator: Isabel Ibarra (México) |
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| 13:30 | 13:55 | Lecture 4 | 00:25 | What is new in congenital disorders of glycosylation? Eva Morava (USA) |
Candidate diseases to be removed from the MS/MS Newborn Screening panel Veronica Wiley (Australia) |
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| 13:55 | 14:20 | Lecture 5 | 00:25 | Mitochondrial disorders: an update José Abdenur (USA) |
Strategies to improve the specificity of NBS results - CLIR: a user's perspective Patricia Hall (USA) |
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| 14:20 | 14:45 | Lecture 6 | 00:25 | Advances in the treatment and follow-up of patients with organic acidurias María Luz Couce (Spain) |
An update on Newborn Screening for X-linked adrenoleukodystrophy (X-ALD) Dietrich Matern (USA) |
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| 14:45 | 15:00 | Questions | 00:15 | ||||
| 15:00 | 15:30 | Posters Viewing | 00:30 | ||||
| Salón Fillmore A: IEM | Salón Avalon A: Newborn Screening | ||||||
| 15:30 | 16:00 | Simultaneous Session III | 00:30 | Phenylketonuria Coordinator: María Jesús Leal-Witt (Chile) |
Molecular Sequencing in Newborn Screening Programs Coordinator: Ernesto González (Cuba) |
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| 15:30 | 15:55 | Lecture 7 | 00:25 | PKU: Diagnosis and treatment in the 21st century Carlos Prada (Colombia) |
Integrating molecular sequencing into Newborn Screening: Examining needs across the screening system Amy Gaviglio (USA) |
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| 15:55 | 16:00 | Questions | 00:05 | ||||
| 16:00 | 17:30 | Oral Communications I | 01:30 | Moderators: Manuel Saborio (Costa Rica) / Leticia Belmont (México) Tittle / Speaker |
Moderators: Tania Marini (Brasil) / María Machado (Uruguay) Tittle / Speaker |
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| 16:00 | 16:15 | Oral Communication 1 | 00:15 | O-001 Investigation of mucopolysaccharidoses by measurement of disease-specific oligosaccharides in cerebrospinal fluid using tandem mass spectrometry Faqueti Larissa Gabriela (Brazil) |
O-015 Medium-chain ACYL-COA dehydrogenase deficiency (MCADD) in Costa Rica: molecular characterization of 38 patients identified through the national newborn screening program. Jiménez Mildred (Costa Rica) |
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| 16:15 | 16:30 | Oral Communication 2 | 00:15 | O-002 Progression of cardiovascular manifestations in patients with mucopolysaccharidoses Poswar Fabiano (Brazil) |
O-016 Genetic diagnosis and genotype-phenotype association in 126 Brazilian individuals with reduced biotinidase activity Randon Dévora Natalia (Brazil) |
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| 16:30 | 16:45 | Oral Communication 3 | 00:15 | O-003 Brain gene editing after nasal administration of the CRISPR/CAS9 system in MPS II mice Baldo Guilherme (Brazil) |
O-017 CFTR mutations in Dominican Republic population Cordero Leandra (República Dominicana) |
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| 16:45 | 17:00 | Oral Communication 4 | 00:15 | O-004 Parkinson's disease in adult patients with gaucher disease type 1: frequency of pre-motor symptoms and lysosomal enzymes profile in cerebrospinal fluid and plasma Wilke Matheus Vernet Machado Bressan (Brazil) |
O-018 Population values of neonatal TSH as an estimate indicator of iodine sufficiency/deficiency status in Buenos Aires Province - Argentina Borrajo Gustavo J C (Argentina) |
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| 17:00 | 17:15 | Oral Communication 5 | 00:15 | O-005 Magnetite nanoparticles as vehicle to transport recombinant hexosaminidase A and B through an in vitro model of blood-brain barrier Espejo Angela Johana (Colombia) |
O-019 Newborn screening celebrates 20 years in south Brazil Paula Regla Vargas (Brazil) |
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| 17:15 | 17:30 | Oral Communication 6 | 00:15 | O-006 CRISPR-mediated genome editing allows the phenotype recovery of three lysosomal storage diseases Almeciga Carlos Javier (Colombia) |
O-020 Newborn screening of congenital endocrine-metabolic diseases in a pediatric hospital, Mendoza - Argentina Guercio Ana María (Argentina) |
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| 17:30 | 17:45 | Break | 00:15 | ||||
| 17:45 | 19:00 | SLEIMPN Bussines Meeting | 01:15 | ||||
Friday 6th May
| Morning | |||||||
| Starts | Ends | Activity | Duration | Tittle / Speaker | |||
| 07:00 | 08:00 | Industry Activity | 01:00 | Industry Symposium (7:00 to 8:00 hs) | |||
| 08:00 | 09:45 | Plenary Session II | 01:45 | Salón Fillmore A Long term implications of Neonatal Screening Coordinators: Roberto Giugliani (Brasil) / Graciela Queiruga (Uruguay) |
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| 08:00 | 08:30 | Plenary Lecture 4 | 00:30 | Ethical, social and legal implications in pilot Newborn Screening Programs Susan Berry (USA) |
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| 08:30 | 09:00 | Plenary Lecture 5 | 00:30 | The art of reporting a positive result in the Newborn Screening Programs Marcela Vela (Mexico) |
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| 09:00 | 09:30 | Plenary Lecture 6 | 00:30 | Clinical approach and admission to the follow-up program in a newly diagnosed case with an IEM Manuel Saborio (Costa Rica) |
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| 09:30 | 09:45 | Questions | 00:15 | ||||
| 09:45 | 10:15 | Coffee Break and Posters Viewing | 00:30 | ||||
| Salón Fillmore A: IEM | Salón Avalon A: Newborn Screening | ||||||
| 10:15 | 10:45 | Simultaneous Session IV - EIM | 00:30 | IEM: a therapeutic approach Coordinator: Carolina Souza (Brazil) |
Newborn Screening in high risk populations Coordinator: Paula Regla Vargas (Brazil) |
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| 10:15 | 10:40 | Lecture 8 - EIM | 00:25 | Small molecules as therapeutic agents for inborn errors of metabolism Antonia Ribes (Spain) |
Newborn Screening considerations for Preterm, Sick and Low Birth Weight Infants Amy Gaviglio (USA) |
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| 10:40 | 10:45 | Questions | 00:05 | ||||
| 10:45 | 11:45 | Comunicaciones Orales II - EIM | 01:00 | Coordinators: Soraia Poloni (Brasil) / José Sotillo (Panamá) Tittle / Speaker |
Coordinators: Claudia Moreno Graciano (México) / Karen Fuenzalida (Chile) Tittle / Speaker |
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| 10:45 | 11:00 | Oral Communication 7 - EIM | 00:15 | O-007 Hypoxanthine-guanine phosphoribosyltransferase deficiency: high clinical variability in argentinean patients with HPRT1 C.584A>C mutation. Cascade genetic screening for identification of new cases and carriers Laróvere Laura Elena (Argentina) |
O-021 Normal reference values of acylcarnitine and amino acids in the Italian population detected in DBS and plasma by tandem mass spectrometry Rizzo Cristiano (Italia) |
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| 11:00 | 11:15 | Oral Communication 8 - EIM | 00:15 | O-008 Epidemiology of urea cycle disorders: cohort of 134 Argentinian patients from the last 20 years. Kleppe Soledad (Argentina) |
O-022 Is maternal vitamin B12 deficiency a suitable condition to be included in newborn screening programs? results of the experience in southern Spain Yahyaoui Raquel (Spain) |
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| 11:15 | 11:30 | Oral Communication 9 - EIM | 00:15 | O-009 The use of sweet manioc starch compared to conventional cornstarch in the treatment of glycogen storage disease type IA Mello De Oliveira Bibiana (Brazil) |
O-023 Simple and fast UPLC-MS/MS method for quantifying 3-o-methyldopa in DBS: an opportunity for newborn and high-risk screening of l-amino-acid decarboxylase deficiency Kubaski Francyne (Estados Unidos) |
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| 11:30 | 11:45 | Oral Communication 10 - EIM | 00:15 | O-010 Plasma lipidomic profiling highlights severe perturbation of lipid metabolism in Smith Lemli Opitz Syndrome Rizzo Cristiano (Italia) |
O-024 Implementation and validation of a second-tier test for methylmalonic acid by LC-MS/MS. Valiente Alf Gunterer (Chile) |
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| 11:45 | 14:00 | Coffee Break and Posters Viewing | 02:15 | Industry Symposium (12 to 13 hs.) | |||
| Afternoon | |||||||
| Starts | Ends | Activity | Duration | Tittle / Speaker | Tittle / Speaker | ||
| Salón Fillmore A: IEM | Salón Avalon A: Newborn Screening | ||||||
| 14:00 | 15:30 | Simultaneous Session V | 01:30 | Vitamins and IEM Coordinator: Marcela Pereyra (Argentina) |
An update in diseases of the basic panel of Newborn Screening Coordinator: Gustavo Dratler (Argentina) |
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| 14:00 | 14:25 | Lecture 9 | 00:25 | Clinical trial of vitamin B5 in pantothenate kinase-2 deficiency Pedro Roa (República Dominicana) |
The influence of algorithms and analytes on the detection of congenital hypothyroidism Patricia Hall (USA) |
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| 14:25 | 14:50 | Lecture 10 | 00:25 | Role of vitamin B12 in some IEMs Gerard T. Berry (USA) |
Biochemical and molecular diagnosis of congenital adrenal hyperplasia Tania Bachega (Brazil) |
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| 14:50 | 15:15 | Lecture 11 | 00:25 | Importance of vitamin D in the long-term follow-up of IEMs Carlos Prada (Colombia) |
Laboratory performance for screening and confirmatory testing in cystic fibrosis Veronica Wiley (Australia) |
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| 15:15 | 15:30 | Questions | 00:15 | ||||
| 15:30 | 16:00 | Coffee Break and Posters Viewing | 00:30 | ||||
| Salón Fillmore A: IEM | Salón Avalon A: Newborn Screening | ||||||
| 16:00 | 16:30 | Simultaneous Session VI | 00:30 | Microbiota and IEM Coordinators: Alejandra Consuelo (México) |
Quality in Newborn Screening Coordinator: Ana María Guercio (Argentina) |
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| 16:00 | 16:25 | Lecture 12 | 00:25 | Is the microbiota modified in metabolic diseases? Ida Schwartz (Brazil) |
Valuation of Laboratory quality in Newborn Screening Gustavo Borrajo (Argentina) |
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| 16:25 | 16:30 | Questions | 00:05 | ||||
| 16:30 | 17:30 | Comunicaciones Orales III | 01:15 | Coordinators: Valerie Hamilton (Chile) / José María Satizábal (Colombia) Tittle / Speaker |
Coordinators: Ernesto González (Cuba) / Mildred Jiménez (Costa Rica) Tittle / Speaker |
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| 16:30 | 16:45 | Oral Communication 11 | 00:15 | O-011 Gene therapy using CRISPR-NCAS9 system in phenylketonuria Almeciga Carlos Javier (Colombia) |
O-025 Adaptation of the automated architect TSH chemiluminescent microparticle immunoassay (CMIA) from Abbott to be used in newborn screening for congenital hypothyroidism Borrajo Gustavo J C (Argentina) |
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| 16:45 | 17:00 | Oral Communication 12 | 00:15 | O-012 Pilot study to describe the diet and gut microbiota in schools with phenylketonuria, hyperphenylalaninemia and controls from Chile Salazar María Florencia (Chile) |
O-026 Development of a web platform (information system) for the complete computer management and integration of the neonatal metabolic screening program in Mexico. Herrera Luz Del Alba (Mexico) |
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| 17:00 | 17:15 | Oral Communication 13 | 00:15 | O-013 Increase in BMI during covid-19 pandemic: an observational study based on two Brazilian reference centers Da Gama Lisiane (Brazil) |
O-027 Analytical performance evaluation for neonatal TSH in the Buenos Aires city neonatal screening program using the CDC-QC material as internal quality control and sigma metric. Barrera Amalia Teresa (Argentina) |
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| 17:15 | 17:30 | Oral Communication 14 | 00:15 | O-014 HOMA2 and metabolites characterization in 26 Chilean PKU adults with and without noncompliance treatment. Leal Maria Jesus (Chile) |
O-028 Performance indicators of a comprehensive expanded neonatal screening program in Yucatan, Mexico. Herrera Luz Del Alba (Mexico) |
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| 17:30 | 20:30 | Congress Dinner | 03:00 | ||||
Saturday 7th May
| Morning | |||||
| Starts | Ends | Activity | Duration | TitleSpeaker | |
| 08:00 | 09:45 | Plenary Session III | 01:45 | Salón Fillmore A An Update in Lysosomal Disorders Coordinators: Francisco Cabello. (Chile) / Hernan Amartino (Argentina) |
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| 09:00 | 09:30 | Plenary Lecture 7 | 00:30 | Analytical alternatives for the NBS for lysosomal disorders: advantages and disadvantages Dietrich Matern (USA) |
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| 09:30 | 10:00 | Plenary Lecture 8 | 00:30 | Critical approach to treatment protocols in mucopolysaccharidosis Antonio González (Spain) |
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| 10:00 | 10:30 | Plenary Lecture 9 | 00:30 | Gene therapy in neuronopathic lysosomal diseases Roberto Giugliani (Brazil) |
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| 10:30 | 10:45 | Questions | 00:15 | ||
| 10:45 | 11:15 | Coffee Break and Posters Viewing | 00:30 | ||
| 11:15 | 12:00 | Special Plenary Session | 00:45 | Follow up for IEM in Latin America Coordintator: Ceila Pérez de Ferrán (Dominican Republic) |
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| 11:15 | 12:00 | Chamoles's Lecture | 00:45 | Chile as an integral model for the follow-up of EIM in Latin America Verónica Cornejo (Chile) |
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| 12:00 | 12:30 | Closure Session | 00:30 | ||
| 12:00 | 12:15 | Awards Ceremony | 00:15 | Verónica Cornejo / Gustavo Borrajo | |
| 12:15 | 12:30 | Closure Ceremony | 00:15 | Ceila Pérez de Ferrán | |
