Navigation überspringen
Universitätsbibliothek Heidelberg
Status: Bibliographieeintrag

Verfügbarkeit
Standort: ---
Exemplare: ---
heiBIB
 Online-Ressource
Verfasst von:Whybra-Trümpler, Catharina [VerfasserIn]   i
 Kampmann, Christoph [VerfasserIn]   i
 Krummenauer, Frank [VerfasserIn]   i
 Ries, Markus [VerfasserIn]   i
 Mengel, Eugen [VerfasserIn]   i
 Miebach, Elke [VerfasserIn]   i
 Baehner, Frank [VerfasserIn]   i
 Kim, K. [VerfasserIn]   i
 Bajbouj, M. [VerfasserIn]   i
 Schwarting, Andreas [VerfasserIn]   i
 Gal, Andreas [VerfasserIn]   i
 Beck, Michael [VerfasserIn]   i
Titel:The Mainz Severity Score Index
Titelzusatz:a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy
Verf.angabe:C Whybra, C Kampmann, F Krummenauer, M Ries, E Mengel, E Miebach, F Baehner, K Kim, M Bajbouj, A Schwarting, A Gal and M Beck
E-Jahr:2004
Jahr:16 February 2004
Umfang:9 S.
Fussnoten:Gesehen am 16.05.2019
Titel Quelle:Enthalten in: Clinical genetics
Ort Quelle:Oxford : Wiley-Blackwell, 1970
Jahr Quelle:2004
Band/Heft Quelle:65(2004), 4, Seite 299-307
ISSN Quelle:1399-0004
Abstract:Anderson-Fabry disease (AFD) is an X-linked disorder caused by deficient activity of the lysosomal enzyme α-galactosidase A. The availability of enzyme replacement therapy (ERT) for this debilitating condition has led to the need for a convenient and sensitive instrument to monitor clinical effects in an individual patient. This study aimed to develop a scoring system - the Mainz Severity Score Index (MSSI) - to measure the severity of AFD and to monitor the clinical course of the disease in response to ERT. Thirty-nine patients (24 males and 15 females) with AFD were assessed using the MSSI immediately before and 1 year after commencing agalsidase alfa ERT. Control data were obtained from 23 patients in whom AFD was excluded. The MSSI of patients with AFD was significantly higher than that of patients with other severe debilitating diseases. The MSSI indicated that, although more men than women had symptoms classified as severe, overall, the median total severity scores were not significantly different between male and female patients. One year of ERT with agalsidase alfa led, in all patients, to a significant (p < 0.001) reduction in MSSI score (by a median of nine points). This study has shown that the MSSI score may be a useful, specific measure for objectively assessing the severity of AFD and for monitoring ERT-related treatment effects.
DOI:doi:10.1111/j.1399-0004.2004.00219.x
URL:Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.

Volltext ; Verlag: https://doi.org/10.1111/j.1399-0004.2004.00219.x
 Volltext: https://onlinelibrary.wiley.com/doi/abs/10.1111/j.1399-0004.2004.00219.x
 DOI: https://doi.org/10.1111/j.1399-0004.2004.00219.x
Datenträger:Online-Ressource
Sprache:eng
Sach-SW:Anderson-Fabry disease
 enzyme replacement therapy
 Mainz Severity Score Index
 α-galactosidase A
K10plus-PPN:1665839457
Verknüpfungen:→ Zeitschrift

Permanenter Link auf diesen Titel (bookmarkfähig):  https://katalog.ub.uni-heidelberg.de/titel/68390466   QR-Code
zum Seitenanfang