Cargando…

Screening program for familial hyperchylomicronemia syndrome detection: Experience of a university health system

OBJECTIVE: Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive metabolic disorder caused by mutations related to chylomicron metabolism. The objective of this study is to show the development and results of a screening program for FCS in Argentina. MATERIALS AND METHODS: A cross-se...

Descripción completa

Detalles Bibliográficos
Autores principales: Masson, Walter, Barbagelata, Leandro, Fleitas, Milagros, Herzkovich, Nicole, Kerschner, Eliana, Rossi, Emiliano, Siniawski, Daniel, Ami, María V., Nogueira, Juan P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Endocrinologia e Metabologia 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10247249/
https://www.ncbi.nlm.nih.gov/pubmed/36748937
http://dx.doi.org/10.20945/2359-3997000000601