Special Article
Newborn screening for metabolic disorders in Spain and worldwide
Situación actual del cribado neonatal de enfermedades metabólicas en España y en el mundo
Daisy Emilia Castiñerasa,b,c, María-Luz Coucea,d,e,f, José Luis Marínf,g,h, Domingo González-Lamuñoi,j, Hugo Rochac,k,
Corresponding author
a Inborn Errors of Metabolism Diagnosis and Treatment Unit, Department of Neonatology, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, A Coruña, Spain
b Metabolic Disorder Laboratory, Hospital Clínico Universitario de Santiago de Compostela, Santiago de Compostela, A Coruña, Spain
c Committee on Prenatal Diagnosis, Sociedad Española de Medicina de Laboratorio, Barcelona, Spain
d Biomedical Research Networking Centre Consortium for Rare Diseases (CIBERER), Instituto de Investigación Sanitaria de Santiago de Compostela (IDIS), Santiago de Compostela, A Coruña, Spain
e Department of Paediatrics, School of Medicine, Universidad de Santiago de Compostela, Santiago de Compostela, A Coruña, Spain
f Asociación Española para el Estudio de los Errores Congénitos del Metabolismo (AECOM), Baracaldo, Vizcaya, Spain
g Newborn Screening Laboratory of Catalonia, Department of Biochemistry and Molecular Genetics, Hospital Clínic de Barcelona, Barcelona, Spain
h Department of Biomedicine, School of Medicine, Universidad de Barcelona, Barcelona, Spain
i Department of Paediatrics, Hospital Universitario Marqués de Valdecilla, Instituto de Investigación Valdecilla (IDIVAL), Universidad de Cantabria, Santander, Spain
j Sociedad Española de Errores Innatos del Metabolismo (SEEIM), Asociación Española de Pediatría (AEP), Madrid, Spain
k Neonatal Screening, Metabolism and Genetics Unit, Department of Human Genetics, Instituto Nacional de Saúde Doutor Ricardo Jorge, Porto, Portugal
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