[HTML][HTML] Understanding the impact of tuberous sclerosis complex: development and validation of the TSC-PROM
AR Müller, MAJ Luijten, L Haverman… - BMC medicine, 2023 - Springer
Background Tuberous sclerosis complex (TSC) is a rare and complex genetic disorder,
associated with tumor growth in various organ systems, epilepsy, and a range of …
associated with tumor growth in various organ systems, epilepsy, and a range of …
[HTML][HTML] A translational approach to spinal neurofibromatosis: Clinical and molecular insights from a Wide Italian Cohort
R Paterra, P Bettinaglio, A Borghi, E Mangano, V Tritto… - Cancers, 2022 - mdpi.com
Simple Summary At present, no systematic study of the clinical spectrum and molecular
characteristics of NF1 patients with spinal neurofibromatosis (SNF), a phenotypic subclass of …
characteristics of NF1 patients with spinal neurofibromatosis (SNF), a phenotypic subclass of …
[HTML][HTML] Rasch measurement and patient reported value claims: A primer for hemophilia
PC Langley - Innovations in Pharmacy, 2022 - ncbi.nlm.nih.gov
This commentary proposes that Rasch Measurement Theory (RMT) is an innovative method
for assessments of patient-centric therapy response in hemophilia A and B, as they are in …
for assessments of patient-centric therapy response in hemophilia A and B, as they are in …
[HTML][HTML] The PlexiQoL, a patient-reported outcome measure on quality of life in neurofibromatosis type 1-associated plexiform neurofibroma: translation, cultural …
BAE Dhaenens, SA van Dijk, W Taal… - Journal of Patient …, 2024 - Springer
Background Half of the patients with Neurofibromatosis type 1 (NF1) develop one or more
tumours called plexiform neurofibromas, which can have a significant impact on Quality of …
tumours called plexiform neurofibromas, which can have a significant impact on Quality of …