Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies
A biomarker is an analyte indicating the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. In the case of lysosomal storage disorders (LSDs), primary and secondary accumulating metabolites or proteins specifically secreted by storage cells ar...
Gespeichert in:
| Veröffentlicht in: | Journal of inherited metabolic disease 2011-06, Vol.34 (3), p.605-619 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 619 |
|---|---|
| container_issue | 3 |
| container_start_page | 605 |
| container_title | Journal of inherited metabolic disease |
| container_volume | 34 |
| creator | Aerts, Johannes M. F. G. Kallemeijn, Wouter W. Wegdam, Wouter Joao Ferraz, Maria van Breemen, Marielle J. Dekker, Nick Kramer, Gertjan Poorthuis, Ben J. Groener, Johanna E. M. Cox-Brinkman, Josanne Rombach, Saskia M. Hollak, Carla E. M. Linthorst, Gabor E. Witte, Martin D. Gold, Henrik van der Marel, Gijs A. Overkleeft, Herman S. Boot, Rolf G. |
| description | A biomarker is an analyte indicating the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. In the case of lysosomal storage disorders (LSDs), primary and secondary accumulating metabolites or proteins specifically secreted by storage cells are good candidates for biomarkers. Clinical applications of biomarkers are found in improved diagnosis, monitoring disease progression, and assessing therapeutic correction. These are illustrated by reviewing the discovery and use of biomarkers for Gaucher disease and Fabry disease. In addition, recently developed chemical tools allowing specific visualization of enzymatically active lysosomal glucocerebrosidase are described. Such probes, coined inhibodies, offer entirely new possibilities for more sophisticated molecular diagnosis, enzyme replacement therapy monitoring, and fundamental research. |
| doi_str_mv | 10.1007/s10545-011-9308-6 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3109260</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>871000721</sourcerecordid><originalsourceid>FETCH-LOGICAL-c5465-5f4a1196f22cbbd3aad3744a8a9c0e89c024959b4222cb62ec67a61fdf4cadb83</originalsourceid><addsrcrecordid>eNqFkU9v1DAQxS0EokvhA3BBERLqhcDYsZ24ByRa_hUVcYEbkuXYzq5L1l48u6D99jjK0gIS4uI5zO-N580j5CGFZxSgfY4UBBc1UFqrBrpa3iILKtqmZlKK22QBlNO6U0IckXuIVwCgOiHukiNGOReSwoJ8OQtpbfJXn7EKsdqufOWCWcaEAas0VOMeExZirHCbsllObUzZFf602uS09SHi02oMm-BKNdGVMavQJxc83id3BjOif3Cox-Tzm9efzt_Vlx_fXpy_vKyt4FLUYuCGUiUHxmzfu8YY17Scm84oC74rD-NKqJ6zCZDMW9kaSQc3cGtc3zXH5MU8d7Pr195ZH7fZjHqTQ7G218kE_WcnhpVepu-6oaCYhDLg5DAgp287j1u9Dmj9OJro0w5115Z7Q8toIR__RV6lXY7FXYGgXFUxVSA6QzYnxOyH61Uo6Ck5PSenS3J6Sk7Lonn0u4drxa-oCvDkABi0ZhyyiTbgDccbVhacjtHO3I8w-v3_f9bvLz68AgmiKNmsxCKKS59vvP1775-F98KW</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>870445929</pqid></control><display><type>article</type><title>Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies</title><source>MEDLINE</source><source>Wiley Online Library All Journals</source><source>SpringerLink Journals - AutoHoldings</source><creator>Aerts, Johannes M. F. G. ; Kallemeijn, Wouter W. ; Wegdam, Wouter ; Joao Ferraz, Maria ; van Breemen, Marielle J. ; Dekker, Nick ; Kramer, Gertjan ; Poorthuis, Ben J. ; Groener, Johanna E. M. ; Cox-Brinkman, Josanne ; Rombach, Saskia M. ; Hollak, Carla E. M. ; Linthorst, Gabor E. ; Witte, Martin D. ; Gold, Henrik ; van der Marel, Gijs A. ; Overkleeft, Herman S. ; Boot, Rolf G.</creator><creatorcontrib>Aerts, Johannes M. F. G. ; Kallemeijn, Wouter W. ; Wegdam, Wouter ; Joao Ferraz, Maria ; van Breemen, Marielle J. ; Dekker, Nick ; Kramer, Gertjan ; Poorthuis, Ben J. ; Groener, Johanna E. M. ; Cox-Brinkman, Josanne ; Rombach, Saskia M. ; Hollak, Carla E. M. ; Linthorst, Gabor E. ; Witte, Martin D. ; Gold, Henrik ; van der Marel, Gijs A. ; Overkleeft, Herman S. ; Boot, Rolf G.</creatorcontrib><description>A biomarker is an analyte indicating the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. In the case of lysosomal storage disorders (LSDs), primary and secondary accumulating metabolites or proteins specifically secreted by storage cells are good candidates for biomarkers. Clinical applications of biomarkers are found in improved diagnosis, monitoring disease progression, and assessing therapeutic correction. These are illustrated by reviewing the discovery and use of biomarkers for Gaucher disease and Fabry disease. In addition, recently developed chemical tools allowing specific visualization of enzymatically active lysosomal glucocerebrosidase are described. Such probes, coined inhibodies, offer entirely new possibilities for more sophisticated molecular diagnosis, enzyme replacement therapy monitoring, and fundamental research.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1007/s10545-011-9308-6</identifier><identifier>PMID: 21445610</identifier><identifier>CODEN: JIMDDP</identifier><language>eng</language><publisher>Dordrecht: Springer Netherlands</publisher><subject>Animals ; Antibodies ; Biochemistry ; Biological and medical sciences ; Biomarkers - analysis ; Biomarkers - metabolism ; Enzyme Replacement Therapy ; Fabry Disease - diagnosis ; Fabry Disease - metabolism ; Fabry Disease - pathology ; Fabry Disease - therapy ; Gaucher Disease - diagnosis ; Gaucher Disease - metabolism ; Gaucher Disease - pathology ; Gaucher Disease - therapy ; Human Genetics ; Humans ; Internal Medicine ; Lipids - analysis ; Lysosomal Storage Diseases - diagnosis ; Lysosomal Storage Diseases - metabolism ; Lysosomal Storage Diseases - pathology ; Lysosomal Storage Diseases - therapy ; Medical genetics ; Medical sciences ; Medicine ; Medicine & Public Health ; Metabolic Diseases ; Models, Molecular ; Pediatrics ; Proteins - analysis ; Proteins - metabolism ; SSIEM Symposium 2010</subject><ispartof>Journal of inherited metabolic disease, 2011-06, Vol.34 (3), p.605-619</ispartof><rights>The Author(s) 2011</rights><rights>2011 The Author(s)</rights><rights>2015 INIST-CNRS</rights><rights>SSIEM and Springer 2011</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5465-5f4a1196f22cbbd3aad3744a8a9c0e89c024959b4222cb62ec67a61fdf4cadb83</citedby><cites>FETCH-LOGICAL-c5465-5f4a1196f22cbbd3aad3744a8a9c0e89c024959b4222cb62ec67a61fdf4cadb83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1007/s10545-011-9308-6$$EPDF$$P50$$Gspringer$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1007/s10545-011-9308-6$$EHTML$$P50$$Gspringer$$Hfree_for_read</linktohtml><link.rule.ids>230,309,310,314,780,784,789,790,885,1417,23929,23930,25139,27923,27924,41487,42556,45573,45574,51318</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=24327218$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/21445610$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Aerts, Johannes M. F. G.</creatorcontrib><creatorcontrib>Kallemeijn, Wouter W.</creatorcontrib><creatorcontrib>Wegdam, Wouter</creatorcontrib><creatorcontrib>Joao Ferraz, Maria</creatorcontrib><creatorcontrib>van Breemen, Marielle J.</creatorcontrib><creatorcontrib>Dekker, Nick</creatorcontrib><creatorcontrib>Kramer, Gertjan</creatorcontrib><creatorcontrib>Poorthuis, Ben J.</creatorcontrib><creatorcontrib>Groener, Johanna E. M.</creatorcontrib><creatorcontrib>Cox-Brinkman, Josanne</creatorcontrib><creatorcontrib>Rombach, Saskia M.</creatorcontrib><creatorcontrib>Hollak, Carla E. M.</creatorcontrib><creatorcontrib>Linthorst, Gabor E.</creatorcontrib><creatorcontrib>Witte, Martin D.</creatorcontrib><creatorcontrib>Gold, Henrik</creatorcontrib><creatorcontrib>van der Marel, Gijs A.</creatorcontrib><creatorcontrib>Overkleeft, Herman S.</creatorcontrib><creatorcontrib>Boot, Rolf G.</creatorcontrib><title>Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><addtitle>J Inherit Metab Dis</addtitle><description>A biomarker is an analyte indicating the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. In the case of lysosomal storage disorders (LSDs), primary and secondary accumulating metabolites or proteins specifically secreted by storage cells are good candidates for biomarkers. Clinical applications of biomarkers are found in improved diagnosis, monitoring disease progression, and assessing therapeutic correction. These are illustrated by reviewing the discovery and use of biomarkers for Gaucher disease and Fabry disease. In addition, recently developed chemical tools allowing specific visualization of enzymatically active lysosomal glucocerebrosidase are described. Such probes, coined inhibodies, offer entirely new possibilities for more sophisticated molecular diagnosis, enzyme replacement therapy monitoring, and fundamental research.</description><subject>Animals</subject><subject>Antibodies</subject><subject>Biochemistry</subject><subject>Biological and medical sciences</subject><subject>Biomarkers - analysis</subject><subject>Biomarkers - metabolism</subject><subject>Enzyme Replacement Therapy</subject><subject>Fabry Disease - diagnosis</subject><subject>Fabry Disease - metabolism</subject><subject>Fabry Disease - pathology</subject><subject>Fabry Disease - therapy</subject><subject>Gaucher Disease - diagnosis</subject><subject>Gaucher Disease - metabolism</subject><subject>Gaucher Disease - pathology</subject><subject>Gaucher Disease - therapy</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>Internal Medicine</subject><subject>Lipids - analysis</subject><subject>Lysosomal Storage Diseases - diagnosis</subject><subject>Lysosomal Storage Diseases - metabolism</subject><subject>Lysosomal Storage Diseases - pathology</subject><subject>Lysosomal Storage Diseases - therapy</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Medicine</subject><subject>Medicine & Public Health</subject><subject>Metabolic Diseases</subject><subject>Models, Molecular</subject><subject>Pediatrics</subject><subject>Proteins - analysis</subject><subject>Proteins - metabolism</subject><subject>SSIEM Symposium 2010</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2011</creationdate><recordtype>article</recordtype><sourceid>C6C</sourceid><sourceid>24P</sourceid><sourceid>WIN</sourceid><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNqFkU9v1DAQxS0EokvhA3BBERLqhcDYsZ24ByRa_hUVcYEbkuXYzq5L1l48u6D99jjK0gIS4uI5zO-N580j5CGFZxSgfY4UBBc1UFqrBrpa3iILKtqmZlKK22QBlNO6U0IckXuIVwCgOiHukiNGOReSwoJ8OQtpbfJXn7EKsdqufOWCWcaEAas0VOMeExZirHCbsllObUzZFf602uS09SHi02oMm-BKNdGVMavQJxc83id3BjOif3Cox-Tzm9efzt_Vlx_fXpy_vKyt4FLUYuCGUiUHxmzfu8YY17Scm84oC74rD-NKqJ6zCZDMW9kaSQc3cGtc3zXH5MU8d7Pr195ZH7fZjHqTQ7G218kE_WcnhpVepu-6oaCYhDLg5DAgp287j1u9Dmj9OJro0w5115Z7Q8toIR__RV6lXY7FXYGgXFUxVSA6QzYnxOyH61Uo6Ck5PSenS3J6Sk7Lonn0u4drxa-oCvDkABi0ZhyyiTbgDccbVhacjtHO3I8w-v3_f9bvLz68AgmiKNmsxCKKS59vvP1775-F98KW</recordid><startdate>201106</startdate><enddate>201106</enddate><creator>Aerts, Johannes M. F. G.</creator><creator>Kallemeijn, Wouter W.</creator><creator>Wegdam, Wouter</creator><creator>Joao Ferraz, Maria</creator><creator>van Breemen, Marielle J.</creator><creator>Dekker, Nick</creator><creator>Kramer, Gertjan</creator><creator>Poorthuis, Ben J.</creator><creator>Groener, Johanna E. M.</creator><creator>Cox-Brinkman, Josanne</creator><creator>Rombach, Saskia M.</creator><creator>Hollak, Carla E. M.</creator><creator>Linthorst, Gabor E.</creator><creator>Witte, Martin D.</creator><creator>Gold, Henrik</creator><creator>van der Marel, Gijs A.</creator><creator>Overkleeft, Herman S.</creator><creator>Boot, Rolf G.</creator><general>Springer Netherlands</general><general>Springer</general><general>Blackwell Publishing Ltd</general><scope>C6C</scope><scope>24P</scope><scope>WIN</scope><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>3V.</scope><scope>7QP</scope><scope>7TK</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>BENPR</scope><scope>CCPQU</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>K9.</scope><scope>M0S</scope><scope>M1P</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>201106</creationdate><title>Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies</title><author>Aerts, Johannes M. F. G. ; Kallemeijn, Wouter W. ; Wegdam, Wouter ; Joao Ferraz, Maria ; van Breemen, Marielle J. ; Dekker, Nick ; Kramer, Gertjan ; Poorthuis, Ben J. ; Groener, Johanna E. M. ; Cox-Brinkman, Josanne ; Rombach, Saskia M. ; Hollak, Carla E. M. ; Linthorst, Gabor E. ; Witte, Martin D. ; Gold, Henrik ; van der Marel, Gijs A. ; Overkleeft, Herman S. ; Boot, Rolf G.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5465-5f4a1196f22cbbd3aad3744a8a9c0e89c024959b4222cb62ec67a61fdf4cadb83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2011</creationdate><topic>Animals</topic><topic>Antibodies</topic><topic>Biochemistry</topic><topic>Biological and medical sciences</topic><topic>Biomarkers - analysis</topic><topic>Biomarkers - metabolism</topic><topic>Enzyme Replacement Therapy</topic><topic>Fabry Disease - diagnosis</topic><topic>Fabry Disease - metabolism</topic><topic>Fabry Disease - pathology</topic><topic>Fabry Disease - therapy</topic><topic>Gaucher Disease - diagnosis</topic><topic>Gaucher Disease - metabolism</topic><topic>Gaucher Disease - pathology</topic><topic>Gaucher Disease - therapy</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>Internal Medicine</topic><topic>Lipids - analysis</topic><topic>Lysosomal Storage Diseases - diagnosis</topic><topic>Lysosomal Storage Diseases - metabolism</topic><topic>Lysosomal Storage Diseases - pathology</topic><topic>Lysosomal Storage Diseases - therapy</topic><topic>Medical genetics</topic><topic>Medical sciences</topic><topic>Medicine</topic><topic>Medicine & Public Health</topic><topic>Metabolic Diseases</topic><topic>Models, Molecular</topic><topic>Pediatrics</topic><topic>Proteins - analysis</topic><topic>Proteins - metabolism</topic><topic>SSIEM Symposium 2010</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Aerts, Johannes M. F. G.</creatorcontrib><creatorcontrib>Kallemeijn, Wouter W.</creatorcontrib><creatorcontrib>Wegdam, Wouter</creatorcontrib><creatorcontrib>Joao Ferraz, Maria</creatorcontrib><creatorcontrib>van Breemen, Marielle J.</creatorcontrib><creatorcontrib>Dekker, Nick</creatorcontrib><creatorcontrib>Kramer, Gertjan</creatorcontrib><creatorcontrib>Poorthuis, Ben J.</creatorcontrib><creatorcontrib>Groener, Johanna E. M.</creatorcontrib><creatorcontrib>Cox-Brinkman, Josanne</creatorcontrib><creatorcontrib>Rombach, Saskia M.</creatorcontrib><creatorcontrib>Hollak, Carla E. M.</creatorcontrib><creatorcontrib>Linthorst, Gabor E.</creatorcontrib><creatorcontrib>Witte, Martin D.</creatorcontrib><creatorcontrib>Gold, Henrik</creatorcontrib><creatorcontrib>van der Marel, Gijs A.</creatorcontrib><creatorcontrib>Overkleeft, Herman S.</creatorcontrib><creatorcontrib>Boot, Rolf G.</creatorcontrib><collection>Springer Nature OA Free Journals</collection><collection>Wiley-Blackwell Open Access Titles</collection><collection>Wiley Free Content</collection><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>ProQuest Central (Corporate)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central</collection><collection>ProQuest One Community College</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central China</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Journal of inherited metabolic disease</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Aerts, Johannes M. F. G.</au><au>Kallemeijn, Wouter W.</au><au>Wegdam, Wouter</au><au>Joao Ferraz, Maria</au><au>van Breemen, Marielle J.</au><au>Dekker, Nick</au><au>Kramer, Gertjan</au><au>Poorthuis, Ben J.</au><au>Groener, Johanna E. M.</au><au>Cox-Brinkman, Josanne</au><au>Rombach, Saskia M.</au><au>Hollak, Carla E. M.</au><au>Linthorst, Gabor E.</au><au>Witte, Martin D.</au><au>Gold, Henrik</au><au>van der Marel, Gijs A.</au><au>Overkleeft, Herman S.</au><au>Boot, Rolf G.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies</atitle><jtitle>Journal of inherited metabolic disease</jtitle><stitle>J Inherit Metab Dis</stitle><addtitle>J Inherit Metab Dis</addtitle><date>2011-06</date><risdate>2011</risdate><volume>34</volume><issue>3</issue><spage>605</spage><epage>619</epage><pages>605-619</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><coden>JIMDDP</coden><abstract>A biomarker is an analyte indicating the presence of a biological process linked to the clinical manifestations and outcome of a particular disease. In the case of lysosomal storage disorders (LSDs), primary and secondary accumulating metabolites or proteins specifically secreted by storage cells are good candidates for biomarkers. Clinical applications of biomarkers are found in improved diagnosis, monitoring disease progression, and assessing therapeutic correction. These are illustrated by reviewing the discovery and use of biomarkers for Gaucher disease and Fabry disease. In addition, recently developed chemical tools allowing specific visualization of enzymatically active lysosomal glucocerebrosidase are described. Such probes, coined inhibodies, offer entirely new possibilities for more sophisticated molecular diagnosis, enzyme replacement therapy monitoring, and fundamental research.</abstract><cop>Dordrecht</cop><pub>Springer Netherlands</pub><pmid>21445610</pmid><doi>10.1007/s10545-011-9308-6</doi><tpages>15</tpages><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0141-8955 |
| ispartof | Journal of inherited metabolic disease, 2011-06, Vol.34 (3), p.605-619 |
| issn | 0141-8955 1573-2665 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3109260 |
| source | MEDLINE; Wiley Online Library All Journals; SpringerLink Journals - AutoHoldings |
| subjects | Animals Antibodies Biochemistry Biological and medical sciences Biomarkers - analysis Biomarkers - metabolism Enzyme Replacement Therapy Fabry Disease - diagnosis Fabry Disease - metabolism Fabry Disease - pathology Fabry Disease - therapy Gaucher Disease - diagnosis Gaucher Disease - metabolism Gaucher Disease - pathology Gaucher Disease - therapy Human Genetics Humans Internal Medicine Lipids - analysis Lysosomal Storage Diseases - diagnosis Lysosomal Storage Diseases - metabolism Lysosomal Storage Diseases - pathology Lysosomal Storage Diseases - therapy Medical genetics Medical sciences Medicine Medicine & Public Health Metabolic Diseases Models, Molecular Pediatrics Proteins - analysis Proteins - metabolism SSIEM Symposium 2010 |
| title | Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-09T01%3A37%3A42IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_pubme&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Biomarkers%20in%20the%20diagnosis%20of%20lysosomal%20storage%20disorders:%20proteins,%20lipids,%20and%20inhibodies&rft.jtitle=Journal%20of%20inherited%20metabolic%20disease&rft.au=Aerts,%20Johannes%20M.%20F.%20G.&rft.date=2011-06&rft.volume=34&rft.issue=3&rft.spage=605&rft.epage=619&rft.pages=605-619&rft.issn=0141-8955&rft.eissn=1573-2665&rft.coden=JIMDDP&rft_id=info:doi/10.1007/s10545-011-9308-6&rft_dat=%3Cproquest_pubme%3E871000721%3C/proquest_pubme%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=870445929&rft_id=info:pmid/21445610&rfr_iscdi=true |