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...

Πλήρης περιγραφή

Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Front Pediatr
Κύριοι συγγραφείς: 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.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Frontiers Media S.A. 2019
Θέματα:
Pediatrics
Διαθέσιμο Online: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
Ετικέτες: Προσθήκη ετικέτας
Δεν υπάρχουν, Καταχωρήστε ετικέτα πρώτοι!

Παρόμοια τεκμήρια