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
in English
|
LILACS-Express
| LILACS
| ID: biblio-1090962
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
Full text:
Available
Index:
LILACS (Americas)
Type of study:
Screening study
/
Systematic reviews
Language:
English
Journal:
J. inborn errors metab. screen
Journal subject:
Medicina Cl¡nica
/
Patologia
Year:
2018
Type:
Article
Affiliation country:
Australia
/
Brazil
/
Canada
/
Colombia
/
France
/
Germany
/
Netherlands
/
Poland
/
Turkey
/
United States
Institution/Affiliation country:
Belfast City Hospital/GB
/
BioMarin Pharmaceutical Inc./US
/
Children's Memorial Health Institute/PL
/
Fundacion Cardioinfantil/CO
/
Great North Children's Hospital and Newcastle University/GB
/
Hacettepe University Children's Hospital/TR
/
Helios Dr. Horst Schmidt Kliniken/DE
/
ICON plc/CA
/
Montreal Children's Hospital/CA
/
Seattle Children's Hospital/US
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