Publications by authors named "Teresa Bosch-Rovira"

Synopsis of recent research by authors named "Teresa Bosch-Rovira"

  • Teresa Bosch-Rovira's research primarily focuses on genetic diseases, specifically the phenotypic expressions and outcomes associated with variants in Anderson-Fabry Disease and hereditary transthyretin amyloidosis.
  • Her 2024 study on the p.Arg301Gln variant highlights inconsistency in reported clinical presentations, indicating a need for more comprehensive understanding of this variant's expression in patients.
  • In a 2021 article, Bosch-Rovira emphasizes the broader psychosocial implications and challenges faced by patients with Val50Met hereditary transthyretin amyloidosis, shedding light on the multifaceted impact of this condition beyond the medical aspects.