Publications by authors named "Fabiola Serra"
Article Synopsis
- The study investigated the impact of COVID-19 on patients with beta-thalassemia major, revealing that while prevalence is slightly lower, mortality rates are higher compared to the general population.
- Out of 68 enrolled patients, only 5 tested positive for COVID-19, with no significant complications or hospitalizations reported, indicating a relatively mild course of the disease in this patient group.
- Vaccination resulted in a strong antibody response, particularly among those who were previously infected, suggesting that beta-thalassemia major patients may have a lower risk of severe COVID-19 than initially thought.
The inborn errors of metabolism (IEMs or Inherited Metabolic Disorders) are a heterogeneous group of diseases caused by a deficit of some specific metabolic pathways. IEMs may present with multiple overlapping symptoms, sometimes difficult delayed diagnosis and postponed therapies. Additionally, many IEMs are not covered in newborn screening and the diagnostic profiling in the metabolic laboratory is indispensable to reach a correct diagnosis.
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