Two Unique Cases of X-linked SCID: A Diagnostic Challenge in the Era of Newborn Screening

In the era of newborn screening (NBS) for severe combined immunodeficiency (SCID) and the possibility of gene therapy (GT), it is important to link SCID phenotype to the underlying genetic disease. In western countries, X-linked interleukin 2 receptor gamma chain (IL2RG) and adenosine deaminase (ADA...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Front Pediatr
Päätekijät: Purswani, Pooja, Meehan, Cristina Adelia, Kuehn, Hye Sun, Chang, Yenhui, Dasso, Joseph F., Meyer, Anna K., Ujhazi, Boglarka, Csomos, Krisztian, Lindsay, David, Alberdi, Taylor, Joychan, Sonia, Trotter, Jessica, Duff, Carla, Ellison, Maryssa, Bleesing, Jack, Kumanovics, Attila, Comeau, Anne M., Hale, Jaime E., Notarangelo, Luigi D., Torgersen, Troy R., Ochs, Hans D., Sriaroon, Panida, Oshrine, Benjamin, Petrovic, Aleksandra, Rosenzweig, Sergio D., Leiding, Jennifer W., Walter, Jolan E.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Frontiers Media S.A. 2019
Aiheet:
Pediatrics
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6460992/
https://ncbi.nlm.nih.gov/pubmed/31024866
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2019.00055
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