[Clinical effectiveness of newborn screening for inborn errors of metabolism by MS/MS. Update: Carnitine uptake deficiency; very long chain acyl-CoA dehydrogenase deficiency]

García G, Vázquez Castelo AM, Candal Pedreira C, Cantero Muñoz P, Varela Lema L, Casal Acción B
Record ID 32018013364
Spanish
Original Title: Efectividad clínica del cribado neonatal de errores congénitos del metabolismo mediante MS/MS. Actualización: Deficiencia primaria de carnitina; Deficiencia de acil-CoA deshidrogenasa de cadena muy larga]
Details
Project Status: Completed
Year Published: 2024
English language abstract: An English language summary is available
Publication Type: Full HTA
Country: Spain
MeSH Terms
  • Neonatal Screening
  • Metabolism, Inborn Errors
  • Carnitine
  • Acyl-CoA Dehydrogenase, Long-Chain
  • Infant, Newborn
  • Tandem Mass Spectrometry
Keywords
  • Neonatal screening
  • Inborn Errors
  • metabolism
  • carnitine
  • Very Long Chain Acyl-CoA Dehydrogenase
Contact
Organisation Name: Scientific Advice Unit, avalia-t; The Galician Health Knowledge Agency (ACIS)
Contact Address: Conselleria de Sanidade, Xunta de Galicia, San Lazaro s/n 15781 Santiago de Compostela, Spain. Tel: 34 981 541831; Fax: 34 981 542854;
Contact Name: avalia-t@sergas.es
Contact Email: avalia-t@sergas.es
Copyright: <p>Galician Agency for Health Technology Assessment (AVALIA-T)</p>
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.