Clinical characteristics of primary carnitine deficiency: A structured review using a case‐by‐case approach

A broad spectrum of signs and symptoms has been attributed to primary carnitine deficiency (PCD) since its first description in 1973. Advances in diagnostic procedures have improved diagnostic accuracy and the introduction of PCD in newborn screening (NBS) programs has led to the identification of a...

Descripción completa

Detalles Bibliográficos
Autores principales: Crefcoeur, Loek L., Visser, Gepke, Ferdinandusse, Sacha, Wijburg, Frits A., Langeveld, Mirjam, Sjouke, Barbara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Review Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9305179/
https://www.ncbi.nlm.nih.gov/pubmed/34997761
http://dx.doi.org/10.1002/jimd.12475

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9305179/
https://www.ncbi.nlm.nih.gov/pubmed/34997761
http://dx.doi.org/10.1002/jimd.12475

Ejemplares similares