Understanding the Early Presentation of Mucopolysaccharidoses Disorders: Results of a Systematic Literature Review and Physician Survey
J. inborn errors metab. screen
; 6: e180013, 2018. tab, graf
Article
en En
|
LILACS-Express
| LILACS
| ID: biblio-1090962
Biblioteca responsable:
BR1.1
ABSTRACT
Abstract As therapies are developed for rare disorders, challenges of early diagnosis become particularly relevant. This article focuses on clinical recognition of mucopolysaccharidoses (MPS), a group of rare genetic diseases related to abnormalities in lysosomal function. As quality of outcomes with current therapies is impacted by timing of intervention, minimizing time to diagnosis is critical. The objective of this study was to characterize how, when, and to whom patients with MPS first present and develop tools to stimulate earlier recognition of MPS. A tripartite approach was used, including a systematic literature review yielding 194 studies, an online physician survey completed by 209 physicians who described
Texto completo:
1
Colección:
01-internacional
Base de datos:
LILACS
Tipo de estudio:
Screening_studies
/
Systematic_reviews
Idioma:
En
Revista:
J. inborn errors metab. screen
Asunto de la revista:
Medicina Cl¡nica
/
Patologia
Año:
2018
Tipo del documento:
Article
País de afiliación:
Australia
/
Brasil
/
Canadá
/
Colombia
/
Francia
/
Alemania
/
Países Bajos
/
Polonia
/
Turquía
/
Estados Unidos
Pais de publicación:
Brasil