Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion

G. E. Linthorst; M. A. de Rie; K. H. Tjiam; J. M. F. G. Aerts; K. P. Dingemans; C. E. M. Hollak

doi:https://doi.org/10.1046/j.1365-2133.2004.05813.x

Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion

G. E. Linthorst, M. A. de Rie, K. H. Tjiam, J. M. F. G. Aerts, K. P. Dingemans, C. E. M. Hollak

Research output: Contribution to journal › Article › Academic › peer-review

21 Citations (Scopus)

Abstract

Generalized angiokeratoma are associated with three lysosomal storage disorders, one of which is Fabry disease (alpha-galactosidase A deficiency). Treatment for Fabry disease with supplementation of recombinant enzyme is available in the European Union and subsequently physicians' awareness may rise. A patient who was erroneously diagnosed with Fabry disease is presented

Original language	English
Pages (from-to)	575-577
Journal	British Journal of Dermatology
Volume	150
Issue number	3
DOIs	https://doi.org/10.1046/j.1365-2133.2004.05813.x
Publication status	Published - 2004

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https://doi.org/10.1046/j.1365-2133.2004.05813.x

Cite this

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title = "Misdiagnosis of Fabry disease: importance of biochemical confirmation of clinical or pathological suspicion",

abstract = "Generalized angiokeratoma are associated with three lysosomal storage disorders, one of which is Fabry disease (alpha-galactosidase A deficiency). Treatment for Fabry disease with supplementation of recombinant enzyme is available in the European Union and subsequently physicians' awareness may rise. A patient who was erroneously diagnosed with Fabry disease is presented",

author = "Linthorst, {G. E.} and {de Rie}, {M. A.} and Tjiam, {K. H.} and Aerts, {J. M. F. G.} and Dingemans, {K. P.} and Hollak, {C. E. M.}",

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AU - Linthorst, G. E.

AU - de Rie, M. A.

AU - Tjiam, K. H.

AU - Aerts, J. M. F. G.

AU - Dingemans, K. P.

AU - Hollak, C. E. M.

PY - 2004

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AB - Generalized angiokeratoma are associated with three lysosomal storage disorders, one of which is Fabry disease (alpha-galactosidase A deficiency). Treatment for Fabry disease with supplementation of recombinant enzyme is available in the European Union and subsequently physicians' awareness may rise. A patient who was erroneously diagnosed with Fabry disease is presented

U2 - https://doi.org/10.1046/j.1365-2133.2004.05813.x

DO - https://doi.org/10.1046/j.1365-2133.2004.05813.x

M3 - Article

C2 - 15030345

SN - 0007-0963

VL - 150

SP - 575

EP - 577

JO - British Journal of Dermatology

JF - British Journal of Dermatology

IS - 3

ER -