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GATA2 deficiency detected by newborn screening for SCID: A case report
The early diagnosis and treatment of inborn errors of immunity (IEI) is crucial in reducing the morbidity and mortality due to these disorders. The institution of newborn screening (NBS) for the diagnosis of Severe Combined Immune Deficiency (SCID) has decreased the mortality of this disorder and le...
Autores principales: | Escobar Vasco, Alejandra, Broglie, Larisa, Talano, Julie-An, Routes, John, Verbsky, James, Remiker, Allison |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9886089/ https://www.ncbi.nlm.nih.gov/pubmed/36726998 http://dx.doi.org/10.3389/fped.2022.1031106 |
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