Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted diet
García, María Ignacia, de la Parra, Alicia, Arias, Carolina, Arredondo, Miguel, Cabello, Juan Francisco
Published in Molecular genetics and metabolism reports (01.06.2017)
Published in Molecular genetics and metabolism reports (01.06.2017)
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Journal Article
First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU
de la Parra, Alicia, García, María Ignacia, Hamilton, Valerie, Arias, Carolina, Cabello, Juan Francisco, Cornejo, Verónica
Published in Molecular genetics and metabolism reports (01.12.2017)
Published in Molecular genetics and metabolism reports (01.12.2017)
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Journal Article
Muscle and Bone Health in Young Chilean Adults with Phenylketonuria and Different Degrees of Compliance with the Phenylalanine Restricted Diet
Rojas-Agurto, Eugenia, Leal-Witt, María Jesús, Arias, Carolina, Cabello, Juan Francisco, Bunout, Daniel, Cornejo, Verónica
Published in Nutrients (28.06.2023)
Published in Nutrients (28.06.2023)
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Journal Article
Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile
Medina, María Fernanda, Castro, Gabriela, Falcon, Felipe, Cabello, Juan Francisco, Faundes, Víctor, Ruffato, Diana, Salazar, María Florencia, Arias, Carolina, Peñaloza, Felipe, De La Parra, Alicia, Cornejo, Verónica
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2021)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2021)
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Journal Article
Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America
Giugliani, Roberto, Villarreal, Martha Luz Solano, Valdez, C Araceli Arellano, Hawilou, Antonieta Mahfoud, Guelbert, Norberto, Garzón, Luz Norela Correa, Martins, Ana Maria, Acosta, Angelina, Cabello, Juan Francisco, Lemes, Aída, Santos, Mara Lucia Schmitz Ferreira, Amartino, Hernán
Published in Genetics and molecular biology (01.06.2014)
Published in Genetics and molecular biology (01.06.2014)
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Journal Article
Clinical and Nutritional Evolution of 24 Patients with Glutaric Aciduria Type 1 in Follow-up at a Center Specialized in Inborn Errors of Metabolism in Chile
Arias, Carolina, Hidalgo, Isabel, Salazar, María Florencia, Cabello, Juan Francisco, Peñaloza, Felipe, Peredo, Pilar, Valiente, Alf, Fuenzalid, Karen, Guerrero, Patricio, Cornej, Verónica
Published in Journal of inborn errors of metabolism and screening (2021)
Published in Journal of inborn errors of metabolism and screening (2021)
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Journal Article
Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world
Muñoz-Rojas, María Verónica, Bay, Luisa, Sanchez, Luz, van Kuijck, Marcel, Ospina, Sandra, Cabello, Juan Francisco, Martins, Ana Maria
Published in Journal of inherited metabolic disease (01.10.2011)
Published in Journal of inherited metabolic disease (01.10.2011)
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Journal Article
Clinical follow up of Chilean patients with tyrosinemia type 1 treated with 2-(2-nitro-4-trifluoromethylbenzoyl)-1,3-ciclohexanedione (NTBC)
Raimann, Erna, Cornejo, Verónica, Arias, Carolina, Cabello, Juan Francisco, Castro, Gabriela, Fernández, Eloina, de la Parra, Alicia
Published in Revista medíca de Chile (01.02.2012)
Published in Revista medíca de Chile (01.02.2012)
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Journal Article
ERRORES INNATOS DEL METABOLISMO
A., Juan Francisco Cabello, Giugliani, Roberto
Published in Revista Médica Clínica Las Condes (01.07.2015)
Published in Revista Médica Clínica Las Condes (01.07.2015)
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Journal Article
Propionic Acidemia and Optic Neuropathy: A Report of Two Cases
Arias, Carolina, Raimann, Erna, Peredo, Pilar, Cabello, Juan Francisco, Castro, Gabriela, Valiente, Alf, de la Parra, Alicia, Bravo, Paulina, Okuma, Cecilia, Cornejo, Verónica
Published in JIMD Reports - Volume 12 (01.01.2014)
Published in JIMD Reports - Volume 12 (01.01.2014)
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Book Chapter
Journal Article
Consideraciones éticas en epilepsia
Fernando, Novoa S., Juan Francisco, Cabello A.
Published in Revista Médica Clínica Las Condes (01.11.2013)
Published in Revista Médica Clínica Las Condes (01.11.2013)
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Journal Article
What should the paediatrician know about hyperphenylalaninaemia?
Bravo, Paulina, Raimann, Erna, Cabello, Juan Francisco, Arias, Carolina, Peredo, Pilar, Castro, Gabriela, Hamilton, Valerie, Campo, Karen, Cornejo, Verónica
Published in Revista chilena de pediatria (01.05.2015)
Published in Revista chilena de pediatria (01.05.2015)
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Journal Article