| Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project D McHugh, CA Cameron, JE Abdenur, M Abdulrahman, O Adair, ... Genetics in Medicine 13 (3), 230-254, 2011 | 385 | 2011 |
| An international classification of inherited metabolic disorders (ICIMD) CR Ferreira, S Rahman, M Keller, J Zschocke, ICIMD Advisory Group, ... Journal of inherited metabolic disease 44 (1), 164-177, 2021 | 170 | 2021 |
| Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests P Mabe, A Valiente, V Soto, V Cornejo, E Raimann Clinica chimica acta 345 (1-2), 135-140, 2004 | 80 | 2004 |
| Methylmalonic acidaemia: examination of genotype and biochemical data in 32 patients belonging to mut, cblA or cblB complementation group B Merinero, B Perez, C Pérez‐Cerdá, A Rincon, LR Desviat, MA Martinez, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2008 | 69 | 2008 |
| Errores innatos en el metabolismo del niño M Colombo, V Cornejo, E Raimann Editorial Universitaria de Chile, 2017 | 56 | 2017 |
| Truths, myths and needs of special diets: attention-deficit/hyperactivity disorder, autism, non-celiac gluten sensitivity, and vegetarianism S Cruchet, Y Lucero, V Cornejo Annals of Nutrition and Metabolism 68 (Suppl. 1), 42-50, 2016 | 53 | 2016 |
| Errores innatos del metabolismo de los aminoácidos V Cornejo, E Raimann, B Pérez Errores innatos en el metabolismo del niño, 59-66, 1999 | 49 | 1999 |
| Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing D Trujillano, B Perez, J González, C Tornador, R Navarrete, G Escaramis, ... European Journal of Human Genetics 22 (4), 528-534, 2014 | 48 | 2014 |
| Past, present and future of newborn screening in Chile V Cornejo, E Raimann, JF Cabello, A Valiente, C Becerra, M Opazo, ... Journal of Inherited Metabolic Disease 33, 301-306, 2010 | 48 | 2010 |
| Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity. LR Desviat, B Perez, M De Lucca, V Cornejo, B Schmidt, M Ugarte American journal of human genetics 57 (2), 337, 1995 | 44 | 1995 |
| Presence of the Mediterranean PKU mutation IVS10 in Latin America B Pérez, LR Desviat, M Die, V Cornejo, NA Chamoles, H Nicolini, ... Human molecular genetics 2 (8), 1289-1290, 1993 | 34 | 1993 |
| Edulcorantes no nutritivos e ingesta diaria admisible en adultos y niños de peso normal y obesos de tres niveles socioeconómicos, y un grupo de diabéticos de la Región … V Hamilton, E Guzmán, C Golusda, L Lera, V Cornejo Revista chilena de nutrición 40 (2), 123-128, 2013 | 28 | 2013 |
| Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia D Gallego, F Leal, A Gámez, M Castro, R Navarrete, O Sanchez‐Lijarcio, ... Human mutation 41 (7), 1329-1338, 2020 | 24 | 2020 |
| Phenylketonuria diagnosed during the neonatal period and breast feeding VC Ea, VM Ea, M Colombo, P Mabe, MJ Ma, CA De la Parra, AV Gc, ... Rev Méd Chile 131, 1280-1287, 2003 | 24 | 2003 |
| Fenilquetonuria de diagnóstico neonatal y lactancia materna V Cornejo, V Manríquez, M Colombo, P Mabe, M Jiménez, A De la Parra, ... Revista médica de Chile 131 (11), 1280-1287, 2003 | 21 | 2003 |
| The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America B Pérez, C Angaroni, R Sánchez‐Alcudia, B Merinero, C Pérez‐Cerdá, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2010 | 20 | 2010 |
| Índice de riesgo nutricional (IRN) en lactantes: aplicación y comparación de un instrumento de evaluación R Rivera, S Guardia, V Cornejo, T Young Revista chilena de nutrición 29 (2), 126-136, 2002 | 20 | 2002 |
| Chilean nutrition management protocol for patients with phenylketonuria G Castro, V Hamilton, V Cornejo Journal of Inborn Errors of Metabolism and Screening 5, 2326409816689788, 2017 | 19 | 2017 |
| Screening pathways through China, the Asia Pacific region, the World V Wiley, D Webster, G Loeber International Journal of Neonatal Screening 5 (3), 26, 2019 | 18 | 2019 |
| Molecular characterization of phenylalanine hydroxylase deficiency in Chile B Pérez, LR Desviat, M De Lucca, V Cornejo, E Raimann, M Ugarte Human Mutation 13 (6), 503-503, 1999 | 18 | 1999 |
Juan Francisco CabelloProfessor, Instituto de Nutricion y Tecnologia de los Alimentos, Universidad de Chile在 inta.uchile.cl 的电子邮件经过验证
