Publications by authors named "Veronica Cornejo"

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Integrating Machine Learning and Follow-Up Variables to Improve Early Detection of Hepatocellular Carcinoma in Tyrosinemia Type 1: A Multicenter Study.
Karen Fuenzalida, María Jesús Leal-Witt, Alejandro Acevedo, Manuel Muñoz, Camila Gudenschwager, Verónica Cornejo

Int J Mol Sci· April 2025

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Analysis of dietary fats intake and lipid profile in Chilean patients with glucose transport type 1 deficiency syndrome: similarities and differences with the reviewed literature.
María Florencia Salazar, María Jesús Leal-Witt, Valentina Parga, Carolina Arias, Verónica Cornejo

Front Nutr· May 2024

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Muscle and Bone Health in Young Chilean Adults with Phenylketonuria and Different Degrees of Compliance with the Phenylalanine Restricted Diet.
Eugenia Rojas-Agurto, María Jesús Leal-Witt, Carolina Arias, Juan Francisco Cabello, Daniel Bunout, Verónica Cornejo

Nutrients· June 2023

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Risk of Developing Insulin Resistance in Adult Subjects with Phenylketonuria: Machine Learning Model Reveals an Association with Phenylalanine Concentrations in Dried Blood Spots.
María Jesús Leal-Witt, Eugenia Rojas-Agurto, Manuel Muñoz-González, Felipe Peñaloza, Carolina Arias, Verónica Cornejo

Metabolites· May 2023

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Neurocognitive outcome and mental health in children with tyrosinemia type 1 and phenylketonuria: A comparison between two genetic disorders affecting the same metabolic pathway.
Kimber van Vliet, Willem G van Ginkel, Rianne Jahja, Anne Daly, Anita MacDonald, Veronica Cornejo

J Inherit Metab Dis· September 2022

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NTBC Treatment Monitoring in Chilean Patients with Tyrosinemia Type 1 and Its Association with Biochemical Parameters and Liver Biomarkers.
Karen Fuenzalida, María Jesús Leal-Witt, Patricio Guerrero, Valerie Hamilton, María Florencia Salazar, Verónica Cornejo

J Clin Med· December 2021

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Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile.
María Fernanda Medina, Gabriela Castro, Felipe Falcon, Juan Francisco Cabello, Víctor Faundes, Verónica Cornejo

Am J Med Genet C Semin Med Genet· September 2021

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Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey.
Soraia Poloni, Bruna Bento Dos Santos, Ana Chiesa, Norma Specola, Marcela Pereyra, Veronica Cornejo

Nutrients· July 2021

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Case report: Maternal tyrosinemia type 1a under NTBC treatment with tyrosine- and phenylalanine restricted diet in Chile.
María F Medina, Carolina Arias, Juan F Cabello, Alicia De la Parra, Alf Valiente, Verónica Cornejo

Am J Med Genet C Semin Med Genet· December 2020

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Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
Diana Gallego, Fátima Leal, Alejandra Gámez, Margarita Castro, Rosa Navarrete, Veronica Cornejo

Hum Mutat· July 2020

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Truths, Myths and Needs of Special Diets: Attention-Deficit/Hyperactivity Disorder, Autism, Non-Celiac Gluten Sensitivity, and Vegetarianism.
Sylvia Cruchet, Yalda Lucero, Verónica Cornejo

Ann Nutr Metab· December 2017

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First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU.
Alicia de la Parra, María Ignacia García, Valerie Hamilton, Carolina Arias, Juan Francisco Cabello, Verónica Cornejo

Mol Genet Metab Rep· December 2017

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[What should the paediatrician know about hyperphenylalaninaemia?].
Paulina Bravo, Erna Raimann, Juan Francisco Cabello, Carolina Arias, Pilar Peredo, Verónica Cornejo

Rev Chil Pediatr· December 2016

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Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD).
Karen Campo, Gabriela Castro, Valerie Hamilton, Juan Francisco Cabello, Erna Raimann, Verónica Cornejo

JIMD Rep· May 2016

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Cognitive functioning in mild hyperphenylalaninemia.
Alicia de la Parra, María Ignacia García, Susan E Waisbren, Verónica Cornejo, Erna Raimann

Mol Genet Metab Rep· December 2015

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Accurate molecular diagnosis of phenylketonuria and tetrahydrobiopterin-deficient hyperphenylalaninemias using high-throughput targeted sequencing.
Daniel Trujillano, Belén Perez, Justo González, Cristian Tornador, Rosa Navarrete, Verónica Cornejo

Eur J Hum Genet· April 2014

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Propionic acidemia and optic neuropathy: a report of two cases.
Carolina Arias, Erna Raimann, Pilar Peredo, Juan Francisco Cabello, Gabriela Castro, Verónica Cornejo

JIMD Rep· January 2014

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[Clinical follow up of Chilean patients with tyrosinemia type 1 treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-ciclohexanedione (NTBC)].
Erna Raimann, Verónica Cornejo, Carolina Arias, Juan Francisco Cabello, Gabriela Castro

Rev Med Chil· February 2012

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The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America.
Belén Pérez, Celia Angaroni, Rocio Sánchez-Alcudia, Begoña Merinero, Celia Pérez-Cerdá, Verónica Cornejo

J Inherit Metab Dis· October 2010

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Newborn screening-progress and challenges.
Georg F Hoffmann, Veronica Cornejo, Rodney J Pollitt

J Inherit Metab Dis· October 2010

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[Glucose transponer type 1 deficiency síndrome (GLUT-1 SD) treated with ketogenic diet. Report of one case].
Verónica E Cornejo, Juan Francisco A Cabello, Marta C Colombo, Erna B Raimann

Rev Med Chil· May 2007

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[Lipids composition diet in phenylketonuric children with early diagnosis].
Verónica Cornejo, Miluska Concha, Juan Francisco Cabello, Erna Raimann

Arch Latinoam Nutr· December 2005

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Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests.
Paulina Mabe, Alf Valiente, Vivian Soto, Verónica Cornejo, Erna Raimann

Clin Chim Acta· July 2004

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[Phenylketonuria diagnosed during the neonatal period and breast feeding].
Verónica Cornejo, Viviana Manríquez, Marta Colombo, Paulina Mabe, Mónica Jiménez

Rev Med Chil· November 2003

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[Diagnosis and follow up of 23 children with organic acidurias].
Verónica Cornejo, Marta Colombo, Gloria Durán, Paulina Mabe, Mónica Jiménez

Rev Med Chil· March 2002

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