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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
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1996 | 1 |
2005 | 1 |
2008 | 1 |
2011 | 1 |
2020 | 1 |
2024 | 0 |
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Analysis of the alpha galactosidase gene: mutation profile and description of two novel mutations with extensive literature review in Turkish population.
J Pediatr Endocrinol Metab. 2020 Aug 19;33(10):1245-1250. doi: 10.1515/jpem-2020-0056.
J Pediatr Endocrinol Metab. 2020.
PMID: 32813676
Review.
Fabry disease: fourteen alpha-galactosidase A mutations in unrelated families from the United Kingdom and other European countries.
Davies JP, Eng CM, Hill JA, Malcolm S, MacDermot K, Winchester B, Desnick RJ.
Davies JP, et al.
Eur J Hum Genet. 1996;4(4):219-24. doi: 10.1159/000472202.
Eur J Hum Genet. 1996.
PMID: 8875188
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Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease.
Schäfer E, Baron K, Widmer U, Deegan P, Neumann HP, Sunder-Plassmann G, Johansson JO, Whybra C, Ries M, Pastores GM, Mehta A, Beck M, Gal A.
Schäfer E, et al.
Hum Mutat. 2005 Apr;25(4):412. doi: 10.1002/humu.9327.
Hum Mutat. 2005.
PMID: 15776423
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Novel mutations of the GLA gene in Japanese patients with Fabry disease and their functional characterization by active site specific chaperone.
Shimotori M, Maruyama H, Nakamura G, Suyama T, Sakamoto F, Itoh M, Miyabayashi S, Ohnishi T, Sakai N, Wataya-Kaneda M, Kubota M, Takahashi T, Mori T, Tamura K, Kageyama S, Shio N, Maeba T, Yahagi H, Tanaka M, Oka M, Sugiyama H, Sugawara T, Mori N, Tsukamoto H, Tamagaki K, Tanda S, Suzuki Y, Shinonaga C, Miyazaki J, Ishii S, Gejyo F.
Shimotori M, et al.
Hum Mutat. 2008 Feb;29(2):331. doi: 10.1002/humu.9520.
Hum Mutat. 2008.
PMID: 18205205
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A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.
Wu X, Katz E, Della Valle MC, Mascioli K, Flanagan JJ, Castelli JP, Schiffmann R, Boudes P, Lockhart DJ, Valenzano KJ, Benjamin ER.
Wu X, et al.
Hum Mutat. 2011 Aug;32(8):965-77. doi: 10.1002/humu.21530. Epub 2011 Jul 12.
Hum Mutat. 2011.
PMID: 21598360
Free PMC article.
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