Newborn Screening for Pompe Disease: Pennsylvania Experience

Pennsylvania started newborn screening for Pompe disease in February 2016. Between February 2016 and December 2019, 531,139 newborns were screened. Alpha-Glucosidase (GAA) enzyme activity is measured by flow-injection tandem mass spectrometry (FIA/MS/MS) and full sequencing of the GAA gene is perfor...

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Detalles Bibliográficos
Autores principales: Ficicioglu, Can, Ahrens-Nicklas, Rebecca C., Barch, Joshua, Cuddapah, Sanmati R., DiBoscio, Brenda S., DiPerna, James C., Gordon, Patricia L., Henderson, Nadene, Menello, Caitlin, Luongo, Nicole, Ortiz, Damara, Xiao, Rui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712483/
https://www.ncbi.nlm.nih.gov/pubmed/33202836
http://dx.doi.org/10.3390/ijns6040089

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7712483/
https://www.ncbi.nlm.nih.gov/pubmed/33202836
http://dx.doi.org/10.3390/ijns6040089

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