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Table of Contents
Vol. 58, No. 6, 2002
Issue release date: 2002
Section title: Review
Horm Res 2002;58:259–265
(DOI:10.1159/000066443)

Fabry Disease – A Metabolic Disorder with a Challenge for Endocrinologists?

Feldt-Rasmussen U. · Rasmussen Å.K. · Mersebach H. · Rosenberg K.M. · Hasholt L. · Sorensen S.A.
aDepartment of Medical Endocrinology, Rigshospitalet and bDepartment of Medical Genetics, Institute of Medical Biochemistry and Genetics, University of Copenhagen, Denmark

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Article / Publication Details

First-Page Preview
Abstract of Review

Received: 2/15/2002
Accepted: 6/25/2002
Published online: 11/29/2002

Number of Print Pages: 7
Number of Figures: 0
Number of Tables: 0

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP

Abstract

Objective: To revisit Fabry disease, a rare X-linked metabolic glycosphingolipid storage disease caused by a deficiency of the lysosomal enzyme α-galactosidase A (α-gal A). Method: Summary of the existing knowledge of Fabry disease including the clinical feature of Fabry disease and the recent breakthrough in the treatment of Fabry patients with the development of recombinant human α-gal A. Conclusion: The diffuse organ manifestations of Fabry disease resemble medical endocrinological diseases, and medical endocrinology might be an appropriate speciality to manage the treatment in collaboration with other specialists and clinical geneticists.


Article / Publication Details

First-Page Preview
Abstract of Review

Received: 2/15/2002
Accepted: 6/25/2002
Published online: 11/29/2002

Number of Print Pages: 7
Number of Figures: 0
Number of Tables: 0

ISSN: 1663-2818 (Print)
eISSN: 1663-2826 (Online)

For additional information: http://www.karger.com/HRP


Copyright / Drug Dosage

Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher or, in the case of photocopying, direct payment of a specified fee to the Copyright Clearance Center.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in goverment regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.

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