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      Aortic Stenosis and Coronary Artery Disease Caused by Alkaptonuria, a Rare Genetic Metabolic Syndrome

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          Abstract

          Alkaptonuria is a rare metabolic disease in which homogentisic acid deposits occur in various body tissues. We present a case of alkaptonuria which resulted in aortic stenosis and coronary artery disease due to homogentisic acid deposition.

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          Mutation and Polymorphism Analysis of the Human Homogentisate 1,2-Dioxygenase Gene in Alkaptonuria Patients

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            Author and article information

            Journal
            CRD
            Cardiology
            10.1159/issn.0008-6312
            Cardiology
            S. Karger AG
            0008-6312
            1421-9751
            1998
            March 1999
            22 March 1999
            : 90
            : 4
            : 302-304
            Affiliations
            Department of Cardiology, Hippokration Hospital, Athens, Greece
            Article
            6863 Cardiology 1998;90:302–304
            10.1159/000006863
            10085494
            © 1998 S. Karger AG, Basel

            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. 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 government 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.

            Page count
            Figures: 2, References: 11, Pages: 3
            Categories
            Case Report

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