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A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.
Hulková H, Cervenková M, Ledvinová J, Tochácková M, Hrebícek M, Poupetová H, Befekadu A, Berná L, Paton BC, Harzer K, Böör A, Smíd F, Elleder M. Hulková H, et al. Among authors: ledvinova j. Hum Mol Genet. 2001 Apr 15;10(9):927-40. doi: 10.1093/hmg/10.9.927. Hum Mol Genet. 2001. PMID: 11309366
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy.
Elleder M, Bradová V, Smíd F, Budĕsínský M, Harzer K, Kustermann-Kuhn B, Ledvinová J, Bĕlohlávek, Král V, Dorazilová V. Elleder M, et al. Among authors: ledvinova j. Virchows Arch A Pathol Anat Histopathol. 1990;417(5):449-55. doi: 10.1007/BF01606034. Virchows Arch A Pathol Anat Histopathol. 1990. PMID: 2173254
73 results