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12. [Neuropathic pain in a young female patient with Fabry's disease: a new mutation of the alpha-galactosidase A gene]. Politei JM; Pagano MA; Dubrovsky A; Pereira F; Matte U; Burin M; Giugliani R Rev Neurol; 2005 Oct 16-31; 41(8):506-7. PubMed ID: 16224739 [No Abstract] [Full Text] [Related]
13. Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy. Tesson F; Richard P; Charron P; Mathieu B; Cruaud C; Carrier L; Dubourg O; Lautié N; Desnos M; Millaire A; Isnard R; Hagege AA; Bouhour JB; Bennaceur M; Hainque B; Guicheney P; Schwartz K; Komajda M Hum Mutat; 1998; 12(6):385-92. PubMed ID: 9829907 [TBL] [Abstract][Full Text] [Related]
14. New point mutation (R301X) of the alpha-galactosidase A gene causing Fabry disease. Kawanishi C; Osaka H; Inoue K; Onishi H; Yamada Y; Sugiyama N; Suzuki K; Hanihara T; Miyagawa T; Kimura S Hum Mutat; 1995; 6(2):186-7. PubMed ID: 7581405 [No Abstract] [Full Text] [Related]
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17. [Chronologic study of signs of myocardiopathy in progressive muscular dystrophy]. Barona Zamora P; Narbona García J; Alvarez Gómez MJ; Fidalgo Andrés ML; Sáenz de Buruaga J; Villa Elizaga I An Esp Pediatr; 1993 Feb; 38(2):173-7. PubMed ID: 8439105 [TBL] [Abstract][Full Text] [Related]
18. Hypertrophic cardiomyopathy in late-onset variant of Fabry disease with high residual activity of alpha-galactosidase A. Nagao Y; Nakashima H; Fukuhara Y; Shimmoto M; Oshima A; Ikari Y; Mori Y; Sakuraba H; Suzuki Y Clin Genet; 1991 Mar; 39(3):233-7. PubMed ID: 1645238 [TBL] [Abstract][Full Text] [Related]
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