A newborn screening approach to diagnose 3‐hydroxy‐3‐methylglutaryl‐CoA lyase deficiency

3‐Hydroxy‐3‐methylglutaryl‐coenzyme A lyase deficiency (HMGCLD) is a rare autosomal recessively inherited metabolic disorder. Patients suffer from avoidable neurologically devastating metabolic decompensations and thus would benefit from newborn screening (NBS). The diagnosis is currently made by me...

Descripción completa

Guardado en:
Detalles Bibliográficos
Publicado en:JIMD Rep
Autores principales: Václavík, Jan, Mádrová, Lucie, Kouřil, Štěpán, de Sousa, Julie, Brumarová, Radana, Janečková, Hana, Jáčová, Jaroslava, Friedecký, David, Knapková, Mária, Kluijtmans, Leo A. J., Grünert, Sarah C., Vaz, Frédéric M., Janzen, Nils, Wanders, Ronald J. A., Wevers, Ron A., Adam, Tomáš
Formato: Artigo
Lenguaje:Inglês
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Research Reports
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7358667/
https://ncbi.nlm.nih.gov/pubmed/32685354
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jmd2.12118
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!

Ejemplares similares