Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening

Proximal urea cycle disorders (PUCDs) have adverse outcomes such as intellectual disability and death, which may benefit from newborn screening (NBS) through early detection and prevention with early treatment. Ornithine transcarbamylase deficiency (OTCD) and carbamoyl phosphate synthetase 1 deficie...

Descripción completa

Detalles Bibliográficos
Autores principales: Vasquez-Loarte, Tania, Thompson, John D., Merritt, J. Lawrence
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712149/
https://www.ncbi.nlm.nih.gov/pubmed/33124615
http://dx.doi.org/10.3390/ijns6040077

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712149/
https://www.ncbi.nlm.nih.gov/pubmed/33124615
http://dx.doi.org/10.3390/ijns6040077

Ejemplares similares