Improvement in Cardiac Function in the Cardiac Variant of Fabry's Disease with Galactose-Infusion Therapy
Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism caused by deficient activity of α-galactosidase A, a lysosomal exoglycosidase. 1 , 2 In males with the classic form of the disease, there is little if any α-galactosidase A activity. As a result, undegraded glycosphingo...
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| Veröffentlicht in: | The New England journal of medicine 2001-07, Vol.345 (1), p.25-32 |
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| creator | Frustaci, Andrea Chimenti, Cristina Ricci, Roberta Natale, Luigi Russo, Matteo A Pieroni, Maurizio Eng, Christine M Desnick, Robert J |
| description | Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism caused by deficient activity of α-galactosidase A, a lysosomal exoglycosidase.
1
,
2
In males with the classic form of the disease, there is little if any α-galactosidase A activity. As a result, undegraded glycosphingolipids accumulate, particularly in the vascular endothelium. These deposits cause the characteristic angiokeratomas, acroparesthesias, hypohidrosis, and corneal opacities of Fabry's disease. Death in early adulthood in affected persons may be due to vascular disease of the heart, kidney, or brain. These abnormalities are absent in males with the cardiac variant of the disease. Those with the cardiac variant . . . |
| doi_str_mv | 10.1056/NEJM200107053450104 |
| format | Article |
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1
,
2
In males with the classic form of the disease, there is little if any α-galactosidase A activity. As a result, undegraded glycosphingolipids accumulate, particularly in the vascular endothelium. These deposits cause the characteristic angiokeratomas, acroparesthesias, hypohidrosis, and corneal opacities of Fabry's disease. Death in early adulthood in affected persons may be due to vascular disease of the heart, kidney, or brain. These abnormalities are absent in males with the cardiac variant of the disease. Those with the cardiac variant . . .</description><identifier>ISSN: 0028-4793</identifier><identifier>EISSN: 1533-4406</identifier><identifier>DOI: 10.1056/NEJM200107053450104</identifier><identifier>PMID: 11439944</identifier><identifier>CODEN: NEJMAG</identifier><language>eng</language><publisher>Boston, MA: Massachusetts Medical Society</publisher><subject>alpha-Galactosidase - physiology ; Biological and medical sciences ; Cardiac Output - drug effects ; Cardiomyopathy, Hypertrophic - etiology ; Cardiomyopathy, Hypertrophic - pathology ; Cardiomyopathy, Hypertrophic - physiopathology ; Case studies ; Disease ; Drug therapy ; Echocardiography ; Enzymes ; Errors of metabolism ; Fabry Disease - complications ; Fabry Disease - drug therapy ; Fabry Disease - genetics ; Fabry Disease - physiopathology ; Galactose - pharmacology ; Galactose - therapeutic use ; Genes ; Heart ; Heart - drug effects ; Humans ; Infusions, Intravenous ; Lipids (lysosomal enzyme disorders, storage diseases) ; Magnetic Resonance Imaging ; Male ; Medical sciences ; Metabolic diseases ; Microscopy, Electron ; Middle Aged ; Molecular Chaperones - physiology ; Mutation ; Mutation, Missense ; Myocardium - pathology ; Myocardium - ultrastructure</subject><ispartof>The New England journal of medicine, 2001-07, Vol.345 (1), p.25-32</ispartof><rights>Copyright © 2001 Massachusetts Medical Society. All rights reserved.</rights><rights>2001 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4884-9e3c0ea3abf2ba964984024136691b9f23d160a4ab8abc62a734866b46ee17103</citedby><cites>FETCH-LOGICAL-c4884-9e3c0ea3abf2ba964984024136691b9f23d160a4ab8abc62a734866b46ee17103</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.nejm.org/doi/pdf/10.1056/NEJM200107053450104$$EPDF$$P50$$Gmms$$H</linktopdf><linktohtml>$$Uhttps://www.nejm.org/doi/full/10.1056/NEJM200107053450104$$EHTML$$P50$$Gmms$$H</linktohtml><link.rule.ids>314,776,780,2746,2747,26080,27901,27902,52357,54039</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=1061665$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11439944$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Frustaci, Andrea</creatorcontrib><creatorcontrib>Chimenti, Cristina</creatorcontrib><creatorcontrib>Ricci, Roberta</creatorcontrib><creatorcontrib>Natale, Luigi</creatorcontrib><creatorcontrib>Russo, Matteo A</creatorcontrib><creatorcontrib>Pieroni, Maurizio</creatorcontrib><creatorcontrib>Eng, Christine M</creatorcontrib><creatorcontrib>Desnick, Robert J</creatorcontrib><title>Improvement in Cardiac Function in the Cardiac Variant of Fabry's Disease with Galactose-Infusion Therapy</title><title>The New England journal of medicine</title><addtitle>N Engl J Med</addtitle><description>Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism caused by deficient activity of α-galactosidase A, a lysosomal exoglycosidase.
1
,
2
In males with the classic form of the disease, there is little if any α-galactosidase A activity. As a result, undegraded glycosphingolipids accumulate, particularly in the vascular endothelium. These deposits cause the characteristic angiokeratomas, acroparesthesias, hypohidrosis, and corneal opacities of Fabry's disease. Death in early adulthood in affected persons may be due to vascular disease of the heart, kidney, or brain. These abnormalities are absent in males with the cardiac variant of the disease. Those with the cardiac variant . . .</description><subject>alpha-Galactosidase - physiology</subject><subject>Biological and medical sciences</subject><subject>Cardiac Output - drug effects</subject><subject>Cardiomyopathy, Hypertrophic - etiology</subject><subject>Cardiomyopathy, Hypertrophic - pathology</subject><subject>Cardiomyopathy, Hypertrophic - physiopathology</subject><subject>Case studies</subject><subject>Disease</subject><subject>Drug therapy</subject><subject>Echocardiography</subject><subject>Enzymes</subject><subject>Errors of metabolism</subject><subject>Fabry Disease - complications</subject><subject>Fabry Disease - drug therapy</subject><subject>Fabry Disease - genetics</subject><subject>Fabry Disease - physiopathology</subject><subject>Galactose - pharmacology</subject><subject>Galactose - therapeutic use</subject><subject>Genes</subject><subject>Heart</subject><subject>Heart - drug effects</subject><subject>Humans</subject><subject>Infusions, Intravenous</subject><subject>Lipids (lysosomal enzyme disorders, storage diseases)</subject><subject>Magnetic Resonance Imaging</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Microscopy, Electron</subject><subject>Middle Aged</subject><subject>Molecular Chaperones - physiology</subject><subject>Mutation</subject><subject>Mutation, Missense</subject><subject>Myocardium - pathology</subject><subject>Myocardium - ultrastructure</subject><issn>0028-4793</issn><issn>1533-4406</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2001</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BEC</sourceid><sourceid>BENPR</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNp9kd9r2zAQx8XYWNOsf8FgmDHah-FNss6y9Tiyps3otpeur-asnImCLaeSvZL_vgoJbSml93LH8bnv_WLso-DfBM_V9z_nv35nnAte8FxCHgN4wyYilzIF4Ootm3CelSkUWh6x4xDWPJoA_Z4dCQFSa4AJs4tu4_v_1JEbEuuSGfqlRZPMR2cG27tdbljRQ_4GvcWI9k0yx9pvz0Ly0wbCQMmdHVbJBbZohj5QunDNGHYK1yvyuNl-YO8abAOdHPyU_ZufX88u06u_F4vZj6vUQFlCqkkaTiixbrIatQJdAs9ASKW0qHWTyaVQHAHrEmujMiwklErVoIhEIbicstO9btzrdqQwVJ0NhtoWHfVjqAquiwJyFcHPz8B1P3oXZ6uyTGpQZbzllMk9ZHwfgqem2njbod9Wgle7N1QvvCFWfTpIj3VHy8eaw90j8OUAYDDYNh6dseGJthJK7bp_3WNdFypH6-7VrvdePZnJ</recordid><startdate>20010705</startdate><enddate>20010705</enddate><creator>Frustaci, Andrea</creator><creator>Chimenti, Cristina</creator><creator>Ricci, Roberta</creator><creator>Natale, Luigi</creator><creator>Russo, Matteo A</creator><creator>Pieroni, Maurizio</creator><creator>Eng, Christine M</creator><creator>Desnick, Robert J</creator><general>Massachusetts Medical Society</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>0TZ</scope><scope>7RV</scope><scope>7X7</scope><scope>7XB</scope><scope>8AO</scope><scope>8C1</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AN0</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BEC</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>HCIFZ</scope><scope>K0Y</scope><scope>LK8</scope><scope>M0R</scope><scope>M0T</scope><scope>M1P</scope><scope>M2M</scope><scope>M2O</scope><scope>M2P</scope><scope>M7P</scope><scope>MBDVC</scope><scope>NAPCQ</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PSYQQ</scope><scope>Q9U</scope><scope>7X8</scope></search><sort><creationdate>20010705</creationdate><title>Improvement in Cardiac Function in the Cardiac Variant of Fabry's Disease with Galactose-Infusion Therapy</title><author>Frustaci, Andrea ; Chimenti, Cristina ; Ricci, Roberta ; Natale, Luigi ; Russo, Matteo A ; Pieroni, Maurizio ; Eng, Christine M ; Desnick, Robert J</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4884-9e3c0ea3abf2ba964984024136691b9f23d160a4ab8abc62a734866b46ee17103</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2001</creationdate><topic>alpha-Galactosidase - physiology</topic><topic>Biological and medical sciences</topic><topic>Cardiac Output - drug effects</topic><topic>Cardiomyopathy, Hypertrophic - etiology</topic><topic>Cardiomyopathy, Hypertrophic - pathology</topic><topic>Cardiomyopathy, Hypertrophic - physiopathology</topic><topic>Case studies</topic><topic>Disease</topic><topic>Drug therapy</topic><topic>Echocardiography</topic><topic>Enzymes</topic><topic>Errors of metabolism</topic><topic>Fabry Disease - complications</topic><topic>Fabry Disease - drug therapy</topic><topic>Fabry Disease - genetics</topic><topic>Fabry Disease - physiopathology</topic><topic>Galactose - pharmacology</topic><topic>Galactose - therapeutic use</topic><topic>Genes</topic><topic>Heart</topic><topic>Heart - drug effects</topic><topic>Humans</topic><topic>Infusions, Intravenous</topic><topic>Lipids (lysosomal enzyme disorders, storage diseases)</topic><topic>Magnetic Resonance Imaging</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Microscopy, Electron</topic><topic>Middle Aged</topic><topic>Molecular Chaperones - 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Academic</collection><jtitle>The New England journal of medicine</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Frustaci, Andrea</au><au>Chimenti, Cristina</au><au>Ricci, Roberta</au><au>Natale, Luigi</au><au>Russo, Matteo A</au><au>Pieroni, Maurizio</au><au>Eng, Christine M</au><au>Desnick, Robert J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Improvement in Cardiac Function in the Cardiac Variant of Fabry's Disease with Galactose-Infusion Therapy</atitle><jtitle>The New England journal of medicine</jtitle><addtitle>N Engl J Med</addtitle><date>2001-07-05</date><risdate>2001</risdate><volume>345</volume><issue>1</issue><spage>25</spage><epage>32</epage><pages>25-32</pages><issn>0028-4793</issn><eissn>1533-4406</eissn><coden>NEJMAG</coden><abstract>Fabry's disease is an X-linked inborn error of glycosphingolipid catabolism caused by deficient activity of α-galactosidase A, a lysosomal exoglycosidase.
1
,
2
In males with the classic form of the disease, there is little if any α-galactosidase A activity. As a result, undegraded glycosphingolipids accumulate, particularly in the vascular endothelium. These deposits cause the characteristic angiokeratomas, acroparesthesias, hypohidrosis, and corneal opacities of Fabry's disease. Death in early adulthood in affected persons may be due to vascular disease of the heart, kidney, or brain. These abnormalities are absent in males with the cardiac variant of the disease. Those with the cardiac variant . . .</abstract><cop>Boston, MA</cop><pub>Massachusetts Medical Society</pub><pmid>11439944</pmid><doi>10.1056/NEJM200107053450104</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| ispartof | The New England journal of medicine, 2001-07, Vol.345 (1), p.25-32 |
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| language | eng |
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| source | MEDLINE; Elektronische Zeitschriftenbibliothek - Frei zugängliche E-Journals; New England Journal of Medicine |
| subjects | alpha-Galactosidase - physiology Biological and medical sciences Cardiac Output - drug effects Cardiomyopathy, Hypertrophic - etiology Cardiomyopathy, Hypertrophic - pathology Cardiomyopathy, Hypertrophic - physiopathology Case studies Disease Drug therapy Echocardiography Enzymes Errors of metabolism Fabry Disease - complications Fabry Disease - drug therapy Fabry Disease - genetics Fabry Disease - physiopathology Galactose - pharmacology Galactose - therapeutic use Genes Heart Heart - drug effects Humans Infusions, Intravenous Lipids (lysosomal enzyme disorders, storage diseases) Magnetic Resonance Imaging Male Medical sciences Metabolic diseases Microscopy, Electron Middle Aged Molecular Chaperones - physiology Mutation Mutation, Missense Myocardium - pathology Myocardium - ultrastructure |
| title | Improvement in Cardiac Function in the Cardiac Variant of Fabry's Disease with Galactose-Infusion Therapy |
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