The Mainz Severity Score Index (MSSI): development and validation of a system for scoring the signs and symptoms of Fabry disease

Author:

Beck Michael

Publisher

Wiley

Subject

General Medicine,Pediatrics, Perinatology and Child Health

Reference5 articles.

1. HughesD. The use of scoring systems in patients with haematological malignancy. Acta Paediatrica 2006;95(Suppl 451):47–51

2. Meikle, PJ and Hopwood, JJ and Clague, AE and Carey, WF. (1999) Prevalence of lysosomal storage disorders JAMA, 281, pp. 249 - 54.

3. Desnick, RJ and Ioannou, YA and Eng, CM.(2001) α-Galactosidase A deficiency: Fabry disease. In The metabolic and molecular bases of inherited disease8th edn. ( pp. 3733 - 74 ). New York : McGraw-Hill.

4. Ries, M and Ramaswami, U and Parini, R and Lindblad, B and Whybra, C and Willers, I and (2003) The early clinical phenotype of Fabry disease: a study on 35 European children and adolescents Eur J Pediatr, 162, pp. 767 - 72.

5. Whybra, C and Kampmann, C and Krummenauer, F and Ries, M and Mengel, E and Miebach, E and (2004) The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy Clin Genet, 65, pp. 299 - 307.

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