Trabajos Orales Pesquisa Neonatal

Orden Título Autores País Tema Acceder al Abstract

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

O-013 NEONATAL HYPERTHYROTROPINAEMIA: LOOKING AT THE END OF THE CONGENITAL HYPOTHYROIDISM SPECTRUM Enacán R
Vieites A
Rodriguez ME
Ballerini MG
Chiesa A
Argentina Congenital Hypothyroidism pdf icon
O-014 CYSTIC FIBROSIS: A 6-YEARS EXPERIENCE OF NEWBORN SCREENING IN THE PUBLIC HEALTH SYSTEM OF SOUTHERN BRAZIL Rispoli T
Rodrigues GM
Mocelin H
Grandi T
Chapper M
Castro SM
Brasil Cystic Fibrosis pdf icon
O-015 AN EXPERIENCE IN MOLECULAR DIAGNOSIS IN ARGENTINEAN PATIENTS WITH CYSTIC FIBROSIS. CURRENT AND FUTURE CHALLENGES. Mugnaini J
Marques I
Bujedo E
Argaraña CE
Dodelson de Kremer R
Oller Ramírez AM
Argentina Cystic Fibrosis pdf icon
O-016 NEWBORN SCREENING PROGRAM FOR HEMOGLOBINOPATHIES IN THE STATE OF YUCATAN, MEXICO. Sauri-Vivas M
Rodríguez-Rivero M
Ortiz-Aguirre SG
Sáenz-Fuentes LG
Manzanero-Traconis LG
Peralta-Lazo AM
Arias-Vidal CE
Herrera-Pérez LA
Maldonado-Solís FA
Maldonado-Solís MA
México Hemoglobinopathies pdf icon

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

O-017 EXPANDED NEWBORN SCREENING IN CHILE (26 CONDITIONS). RESULTS OF A PILOT PROGRAM. Valiente AG
Faundez A
Cabello JF
Lobo G
Berrios CG
Valdebenito S
Cornejo V
Chile Expanded NBS pdf icon
O-018 DEVELOPMENT OF A HOME-MADE FLUOROMETRIC METHOD FOR THE MEASUREMENT OF BIOTINIDASE ACTIVITY IN DRIED BLOOD SPOTS: PRELIMINARY RESULTS. Gómez FR
Procopio D
Dietz MF
Borrajo GJC
Argentina Methods Development pdf icon
O-019 HEMATOCRIT AN UNCONTROLLABLE VARIABLE IN NEWBORN SCREENING? Vilche Juarez A
Dratler G
Coniglio S
Marino S
Tommasi F
Quiroga S
Argentina Dried Blood Spots pdf icon
O-020 RESIDUAL NEWBORN SCREENING SAMPLES: HOW LONG ARE THEY USEFUL FOR RETESTING WHEN STORED IN UNCONTROLLED CONDITIONS?. Doña VV
Di Carlo CM
Borrajo GJC
Argentina Dried Blood Spots pdf icon

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

O-021 SCREENING FOR CONGENITAL IMMUNODEFICIENCIES - SCID, AGAMAGLOBULINEMIA AND OTHER T AND B CELL LYMPHOPENIAS IN BRAZIL Alencar-Cupertino DO
Lima CFF
Vasconcelos JF
Macedo-Andrade ES
Michelleti C
Aragão MR
Brito AFE
Fonseca JHR
Fonseca AA
Brasil SCID pdf icon
O-022 PHENYLALANINE HYDROXILASE (PAH) GENOTYPING IN PKU ARGENTINE PATIENTS Enacán R
Prieto L
Nuñez Miñana M
Fernandez L
Valle MG
Salerno M
Santos Simarro F
Lapunzina P
Specola N
Chiesa A
Argentina Phenylketonuria pdf icon
O-023 MSUD GENOTYPE AND PHENOTYPE CHARACTERIZATION IN CHILE Ruffato D
Hamilton V
Margutti AV
Silva W
Garcia DF
Molfetta GA
Marques AA
Schwartz IV
Cornejo V
Castro G
Chile MSUD pdf icon
O-024 GENETIC HYPERPHENYLALANINEMIA AND MAPLE SYRUP URINE DISEASE IN BRAZILIAN PATIENTS: DEVELOPMENT OF DIAGNOSIS USING GENE PANELS AND NEXT-GENERATION SEQUENCING Tresbach RH
Sperb-Ludwig F
Tonon T
Schwartz IVD
Brasil Amino Acid Disorders pdf icon