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An atypical variant of Fabry's disease with manifestations confined to the myocardium.
Medizinische Klinik, Ludwig-Maximilians-Universität München, Klinikum Grosshadern.
PMID: 1846223 [PubMed - indexed for MEDLINE]
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Cited by 17 PubMed Central articles
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Screening for Fabry disease in patients with chronic kidney disease: limitations of plasma alpha-galactosidase assay as a screening test.
Andrade J, Waters PJ, Singh RS, Levin A, Toh BC, Vallance HD, Sirrs S.
Clin J Am Soc Nephrol. 2008 Jan; 3(1):139-45. Epub 2007 Nov 14.
[Clin J Am Soc Nephrol. 2008]
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Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
Ishii S, Chang HH, Kawasaki K, Yasuda K, Wu HL, Garman SC, Fan JQ.
Biochem J. 2007 Sep 1; 406(2):285-95.
[Biochem J. 2007]
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High incidence of later-onset fabry disease revealed by newborn screening.
Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ.
Am J Hum Genet. 2006 Jul; 79(1):31-40. Epub 2006 Apr 28.
[Am J Hum Genet. 2006]
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