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Proceedings SNO “LX Congresso Nazionale SNO”

multiorgano a carattere progressivo, è inoltre essenziale la 4. Kolodny E, Fellgiebel A, Hilz MJ, Sims K, Caruso P, Phan TG,
gestione integrata dei pazienti affetti mediante la collabo- Politei J, Manara R, Burlina A. Cerebrovascular involvement
razione tra i vari specialisti: nefrologi, cardiologi, genetisti, in Fabry disease: current status of knowledge. Stroke 2015; 46
radiologi, neurologi e pediatri. (1): 302-13.
5. Berger JR. Misdiagnosis of multiple sclerosis in a female het-
erozygote with Fabry’s disease. Mult Scler Relat Disord 2019;
30: 45-47.
BIBLIOGRAFIA
6. Wise AH, Yang A, Naik H, Stauffer C, Zeid N, Liong C,
1. Desnick RJ, Ioannou YA, Eng ME. Alpha-galactosidase A de- Balwani M, Desnick RJ, Alcalay RN. Parkinson’s disease
ficiency: Fabry disease. In: Scriver CR, Beaudet AL, Sly WS,
prevalence in Fabry disease: A survey study. Mol Genet Metab
Valle D (editors): The metabolic bases of inherited disease (8th
Rep 2017; 14: 27-30.
edition), vol. 3. New York, McGraw-Hill, 2001: 3733-3774.
7. Alcalay RN, Wolf P, Levy OA, Kang UJ, Waters C, Fahn S,
2. Germain DP. Fabry disease. Orphanet J Rare Dis 2010; 5: 30
Ford B, Kuo SH, Vanegas N, Shah H, Liong C, Narayan S,
3. Germain DP, Benistan K, Angelova L. X-linked inheritance Pauciulo MW, Nichols WC, Gan-Or Z, Rouleau GA, Chung
and its implication in the diagnosis and management of female WK, Oliva P, Keutzer J, Marder K, Zhang XK. Alpha galac-
patients in Fabry disease. Rev Med Intern 2010; 31 (S2): tosidase A activity in Parkinson’s disease. Neurobiol Dis 2018;
S209-213. 112: 85-90.

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