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Exome-Based Trio Analysis for Diagnosis of the Cause of Congenital Severe Hemolytic Anemia in a Child
Inborn hemolytic anemia requiring frequent blood transfusions can be a life-threatening disease. Treatment, besides blood transfusion, includes iron chelation for prevention of iron accumulation due to frequent blood transfusions. We present the results of a clinical investigation where the proband...
Autores principales: | Rieneck, Klaus, Lausen, Birgitte, Clausen, Frederik Banch, Jønson, Lars, Hansen, Anne Todsen, Dziegiel, Morten Hanefeld |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
S. Karger AG
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10642527/ https://www.ncbi.nlm.nih.gov/pubmed/37969868 http://dx.doi.org/10.1159/000523706 |
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