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Ultrastructural Pathology Volume 14, 1990 - Issue 6
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Original Article

An Atypical Ultrastructural Pattern in Fabry's Disease: A Study on Its Nature and Incidence in 7 Cases

M. Elleder 1st Institute of Pathology, Laboratory for Proteosynthesis, 2nd Dermatological Clinic, 4th Paediatric Clinic, School of Medicine, Charles University, Middle Bohemia District, Department of Medical Genetics, Prague, Czechoslovakia; Biochemical Laboratory, C.H.U. Saint-Antoine, Paris, France
,
J. Ledvinová 1st Institute of Pathology, Laboratory for Proteosynthesis, 2nd Dermatological Clinic, 4th Paediatric Clinic, School of Medicine, Charles University, Middle Bohemia District, Department of Medical Genetics, Prague, Czechoslovakia; Biochemical Laboratory, C.H.U. Saint-Antoine, Paris, France
,
F. Vosmik 1st Institute of Pathology, Laboratory for Proteosynthesis, 2nd Dermatological Clinic, 4th Paediatric Clinic, School of Medicine, Charles University, Middle Bohemia District, Department of Medical Genetics, Prague, Czechoslovakia; Biochemical Laboratory, C.H.U. Saint-Antoine, Paris, France
,
J. Zeman 1st Institute of Pathology, Laboratory for Proteosynthesis, 2nd Dermatological Clinic, 4th Paediatric Clinic, School of Medicine, Charles University, Middle Bohemia District, Department of Medical Genetics, Prague, Czechoslovakia; Biochemical Laboratory, C.H.U. Saint-Antoine, Paris, France
,
D. Stejskal 1st Institute of Pathology, Laboratory for Proteosynthesis, 2nd Dermatological Clinic, 4th Paediatric Clinic, School of Medicine, Charles University, Middle Bohemia District, Department of Medical Genetics, Prague, Czechoslovakia; Biochemical Laboratory, C.H.U. Saint-Antoine, Paris, France
&
A. Lageron 1st Institute of Pathology, Laboratory for Proteosynthesis, 2nd Dermatological Clinic, 4th Paediatric Clinic, School of Medicine, Charles University, Middle Bohemia District, Department of Medical Genetics, Prague, Czechoslovakia; Biochemical Laboratory, C.H.U. Saint-Antoine, Paris, France
Pages 467-474 | Accepted 03 May 1990, Published online: 10 Jul 2009

Citations (10)

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Adriana M. Doldan-Silvero, Gretl Nunnemacher, Michael Germain & Giovanna M. Crisi. (2010) Electron Microscopy in End Stage Renal Disease: A Case of Fabry's Disease. Ultrastructural Pathology 34:5, pages 307-313.
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A. Tosoni, M. Nebuloni, P. Zerbi, L. Vago, C. Comotti & A. Sessa. (2005) Ultrastructural Study of Renal Involvement in Two Females with Anderson-Fabry Disease. Ultrastructural Pathology 29:3-4, pages 203-207.
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Articles from other publishers (8)

D. Marchesan, T. M. Cox & P. B. Deegan. (2012) Lysosomal delivery of therapeutic enzymes in cell models of Fabry disease. Journal of Inherited Metabolic Disease 35:6, pages 1107-1117.
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Milan Elleder. 2010. Fabry Disease. Fabry Disease 39 79 .
R.J. Desnick. 2009. Genetic Diseases of the Kidney. Genetic Diseases of the Kidney 597 616 .
P. Clavelou, G. Besson, C. Elziere, A. Ferrier, J.-M. Pinard, M. Hermier, J.Y. Artigou & D.P. Germain. (2006) Manifestations neurologiques de la maladie de Fabry. Revue Neurologique 162:5, pages 569-580.
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T. Kanekura, T. Fukushige, A. Kanda, S. Tsuyama, F. Murata, H. Sakuraba & T. Kanzaki. (2005) Immunoelectron-microscopic detection of globotriaosylceramide accumulated in the skin of patients with Fabry disease. British Journal of Dermatology 153:3, pages 544-548.
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Paul S. Giacomini, Patrick T. Shannon, Joe T.R. Clarke & Cheryl Jaigobin. (2014) Fabry’s Disease Presenting as Stroke in a Young Female. Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 31:1, pages 112-114.
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M Elleder. (2007) Sequelae of storage in Fabry disease - pathology and comparison with other lysosomal storage diseases. Acta Paediatrica 92, pages 46-53.
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Jana Ledvinová, Helena Poupětová, Alžběta Hanáčková, Martin Pı́sačka & Milan Elleder. (1997) Blood group B glycosphingolipids in α-galactosidase deficiency (Fabry disease): influence of secretor status. Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism 1345:2, pages 180-187.
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