TY  - JOUR
A1  - Klingelhöfer, Doris
A1  - Braun, Markus
A1  - Seeger-Zybok, Rebekka
A1  - Quarcoo, David
A1  - Brüggmann, Dörthe
A1  - Groneberg, Jan David Alexander
T1  - Global research on Fabry's disease: demands for a rare disease
T2  - Molecular genetics & genomic medicine
N2  - Background: Fabry disease (FD), the second most prevalent lysosomal storage disorder, is classified as a rare disease. It often leads to significant quality of life impairments and premature death. Many cases remain undiagnosed due to the rarity and heterogeneity. Further, costs related to treatment often constitute a substantial financial burden for patients and health systems. While its epidemiology is still unclear, newborn screenings suggest that its actual prevalence rate is significantly higher than previously suspected. Methods: Based on well-established methodologies, this study gives an overview about the background of the development of FD-related research and provides a critical view of future needs. Results: On the grounds of benchmarking findings, an increasing research activity on FD can be observed. Most publishing countries are the USA, some European countries, Japan, Taiwan, and South Korea. In general, high-income countries publish comparably more on FD than low- or middle-income economies. The countries' financial and infrastructural background are unveiled as crucial factors for the FD research activity. Conclusions: Overall, there is a need to foster FD research infrastructure in developing and emerging countries with focus on cost-intensive genetic research that is independent from economic interests of big pharmaceutical companies.
KW  - alpha-galactosidase A deficiency
KW  - Anderson–Fabry
KW  - angiokeratoma diffuse
KW  - bibliometrics
KW  - GLA deficiency
KW  - hereditary dystopic lipidosis
Y1  - 2020
UR  - http://publikationen.ub.uni-frankfurt.de/frontdoor/index/index/docId/63942
UR  - https://nbn-resolving.org/urn:nbn:de:hebis:30:3-639422
SN  - 2324-9269
VL  - 8
IS  - 9, art. e1163
SP  - 1
EP  - 15
PB  - Wiley
CY  - Chichester [u.a.]
ER  -