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Juan Francisco Cabello Andrade

Jefe

Universidad de Chile

Santiago, Chile

Errores Innatos del Metabolismo, Pesquisa neonatal, bioetica, Neurologia pediatrica.

Medico Cirujano, UNIVERSIDAD DE VALPARAISO. Chile, 1999
Neurologia Pediatrica, UNIVERSIDAD DE VALPARAISO. Chile, 2003

Académico Instructor Adjunto Part Time

UNIVERSIDAD DE CHILE

Instituto de Nutricion y Tecnologia de los Alimentos

Santiago, Chile

2005 - A la fecha
Profesor Auxiliar Part Time

UNIVERSIDAD DE VALPARAISO

Medicina

Valparaiso, Chile

1999 - A la fecha

Jefe del Programa de Especializacion en Neurologia Pediatrica Part Time

Universidad de Valparaiso

Valparaiso, Chile

2010 - A la fecha
Director Medico CEDINTA Part Time

Universidad de Chile

Santiago, Chile

2016 - A la fecha
Jefe del Equipo de genética y Enfermedades Metabolicas Part Time

Universidad de Chile

Santiago, Chile

2017 - A la fecha
Director Célula Enfermedades Metabólicas, Hospital Digital Other

Ministerio de Salud

Santiago, Chile

2019 - A la fecha

1.- Jefe del programa de Formacion en neurologia Pediatrica, Facultad de Medicina, Universidad de Valparaiso.
2.- Educacion de post grado de residentes de Neurologia Pediatrica de la Universidad de Chile, Universidad de Valparaiso: residentes de Neonatologia de la U de Chile, U de Valparaiso y U de la Frontera; residentes de Genetica de la U de Chile; residentes de Pediatria de la U de los Andes que rotan por el policlinico de Enfermedades Metabolicas del INTA de la U de Chile.


Expanded Newborn Screening and Genomic Sequencing in Latin America and the Resulting Social Justice and Ethical Considerations Cabello, Juan F.; Novoa, Fernando; Huff, Hanalise V.; Colombo, Marta Article ISI INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2021)
Hepatic glycogen storage diseases: symptoms, management and associated mutations Grez, Catalina Article ISI ANDES PEDIATRICA (2021)
Maple syrup urine disease: Characteristics of diagnosis and treatment in 45 patients in Chile Fernanda Medina, Maria; Castro, Gabriela; Falcon, Felipe; Francisco Cabello, Juan; Ruffato, Diana; Florencia Salazar, Maria; Arias, Carolina; De la Parra, Alicia Article ISI AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2021)
Case report: Maternal tyrosinemia type 1a under NTBC treatment with tyrosine- and phenylalanine restricted diet in Chile Medina, Maria F.; Arias, Carolina; Valiente, Alf; Castro, Gabriela Article ISI AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS (2020)
Characterization of phenyalanine hydroxylase gene mutations in chilean PKU patients Hamilton, V; Santa MarÃa L.; Fuenzalida K.; Ugarte, M; PÃ©rez B.; Cornejo, V Article SCOPUS JIMD Reports (2018)
First-year metabolic control guidelines and their impact on future metabolic control and neurocognitive functioning in children with PKU Article ISI SCOPUS Molecular Genetics and Metabolism Reports (2017)
Long-term cognitive functioning in individuals with tyrosinemia type 1 treated with nitisinone and protein-restricted diet Article ISI SCOPUS MOLECULAR GENETICS AND METABOLISM REPORTS (2017)
Energy Expenditure in Chilean Children with Maple Syrup Urine Disease (MSUD) Campo, Karen; Castro, Gabriela; Cabello, Juan Francisco; Raimann, Erna; Arias, Carolina; Patterson, M; Zschocke, J; Morava, E Article ISI JIMD REPORTS, VOL 26 (2016)
What should the paediatrician know about hyperphenylalaninaemia? [¿Qué debe saber el pediatra de las hiperfenilalaninemias?] Bravo, P; Raimann E.; Arias, C; Peredo, P.; CASTRO, G; Hamilton, V; Campo K.; Cornejo, V Article SCOPUS Revista Chilena de Pediatria (2015)
Propionic acidemia and optic neuropathy: A report of two cases Raimann E.; Peredo, P.; Valiente A.; de la Parra A.; Okuma C.; Cornejo, V Article ISI SCOPUS JIMD Reports (2014)
Clinical manifestations and treatment of mucopolysaccharidosis type I patients in Latin America as compared with the rest of the world Munoz-Rojas, MV; Bay, L; Sánchez L.; Van Kuijck M.; Ospina S.; Cabello JF.; Martins, AM Article ISI SCOPUS Journal of Inherited Metabolic Disease (2011)
Past, present and future of newborn screening in Chile Cornejo, V; Raimann E.; Cabello JF.; Valiente A.; Becerra C.; Opazo, M.; Colombo, M Article ISI SCOPUS Journal of Inherited Metabolic Disease (2010)
Binding of microtubules to transitional elements in oligodendrocytes of the myelin mutant taiep rat Couve, Eduardo; Krsulovic, J; Roncagliolo, M Article JOURNAL OF NEUROSCIENCE RESEARCH (1997)


Síndrome de deficiencia del transportador de glucosa tipo 1 (SDGLUT-1) tratado con dieta cetogénica: Caso clínico Cornejo E, Verónica; Cabello A, Juan Francisco; Colombo C, Marta; Raimann B, Erna CaseReport SCIELO REVISTA MEDICA DE CHILE (2007)


Guidelines for diagnosis and treatment of Hunter Syndrome for clinicians in Latin America Giugliani R.; Araceli Arellano Valdez C.; Guelbert N.; Acosta, A; Lemes A.; Amartino H. Review ISI SCOPUS GENETICS AND MOLECULAR BIOLOGY (2014)