Cargando…
Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives
Newborn screening enables the diagnosis of treatable disorders at the early stages, and because of its countless benefits, conditions have been continuously added to screening panels, allowing early intervention, aiming for the prevention of irreversible manifestations and even premature death. Muco...
Autores principales: | Kubaski, Francyne, Sousa, Inês, Amorim, Tatiana, Pereira, Danilo, Trometer, Joe, Souza, Alexandre, Ranieri, Enzo, Polo, Giulia, Burlina, Alberto, Brusius-Facchin, Ana Carolina, Netto, Alice Brinckmann Oliveira, Tomatsu, Shunji, Giugliani, Roberto |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7711587/ https://www.ncbi.nlm.nih.gov/pubmed/33203019 http://dx.doi.org/10.3390/ijns6040090 |
Ejemplares similares
-
Detection of Mosaic Variants in Mothers of MPS II Patients by Next Generation Sequencing
por: Oliveira Netto, Alice Brinckmann, et al.
Publicado: (2021) -
Experience of the NPC Brazil Network with a Comprehensive Program for the Screening and Diagnosis of Niemann-Pick Disease Type C
por: Kubaski, Francyne, et al.
Publicado: (2022) -
Bone mineral density in mucopolysaccharidosis IVB
por: Kubaski, Francyne, et al.
Publicado: (2016) -
Diagnosis of Mucopolysaccharidoses
por: Kubaski, Francyne, et al.
Publicado: (2020) -
Increased Serum Levels of miR-125b and miR-132 in Fragile X Syndrome: A Preliminary Study
por: Couto, Rowena Rubim, et al.
Publicado: (2022)