Cargando…
A Custom-Made Newborn Screening Test for Wilson’s Disease in Puerto Rico
Background Wilson’s disease (WD) is an autosomal recessive progressive, disabling, life-threatening disease. Although early diagnosis and treatment can halt disease progression and reverse disability, diagnosis is often challenging, with a mean diagnostic delay of approximately two years. At least 9...
Autores principales: | Vicario-Feliciano, Raquel, Hernández-Hernández, Cristal I, Camacho-Pastor, Ivonne C, Martínez-Cruzado, Juan C |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2022
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9129266/ https://www.ncbi.nlm.nih.gov/pubmed/35637795 http://dx.doi.org/10.7759/cureus.24446 |
Ejemplares similares
-
Primary Ciliary Dyskinesia: Ancestral Haplotypes Analysis of the RSPH4A Founder Mutation in Puerto Rico
por: De Jesús-Rojas, Wilfredo, et al.
Publicado: (2021) -
The Puerto Rico Alzheimer Disease Initiative (PRADI): A Multisource Ascertainment Approach
por: Feliciano-Astacio, Briseida E., et al.
Publicado: (2019) -
Adult Refsum Disease in Puerto Rico: A Case Report
por: Ramos-Sánchez, Raúl Y, et al.
Publicado: (2023) -
The metagenome of bromeliads phytotelma in Puerto Rico
por: Rodriguez-Nuñez, Kiara M., et al.
Publicado: (2017) -
Puerto Rico
por: Bayo, Armando
Publicado: (1966)