Cargando…
The role of ERNDIM diagnostic proficiency schemes in improving the quality of diagnostic testing for inherited metabolic diseases
External quality assurance (EQA) is crucial to monitor and improve the quality of biochemical genetic testing. ERNDIM (www.erndim.org), established in 1994, aims at reliable and standardized procedures for diagnosis, treatment and monitoring of inherited metabolic disease (IMD) by providing EQA sche...
Autores principales: | Mathis, Déborah, Croft, Joanne, Chrastina, Petr, Fowler, Brian, Vianey‐Saban, Christine, Ruijter, George J. G. |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley & Sons, Inc.
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9540881/ https://www.ncbi.nlm.nih.gov/pubmed/35560233 http://dx.doi.org/10.1002/jimd.12523 |
Ejemplares similares
-
Towards values‐based healthcare for inherited metabolic disorders: An overview of current practices for persons with liver glycogen storage disease and fatty acid oxidation disorders
por: Venema, Annieke, et al.
Publicado: (2022) -
Reproductive genetic carrier screening and inborn errors of metabolism: The voice of the inborn errors of metabolism community needs to be heard
por: Kirk, Edwin P., et al.
Publicado: (2022) -
Treating inborn errors of liver metabolism with stem cells: current clinical development
por: Sokal, Etienne Marc
Publicado: (2014) -
Development of the KOSHA Proficiency Testing Scheme on Asbestos Analysis in Korea
por: Kwon, Jiwoon, et al.
Publicado: (2017) -
Residents’ proficiency in diagnostics with all ophthalmic equipment – Need of the hour
por: Sinha, Sony, et al.
Publicado: (2021)