N‐Acetylglutamate synthetase deficiency responding to carbamylglutamate
Gespeichert in:
| Veröffentlicht in: | Journal of inherited metabolic disease 1997-11, Vol.20 (6), p.839-840 |
|---|---|
| Hauptverfasser: | , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 840 |
|---|---|
| container_issue | 6 |
| container_start_page | 839 |
| container_title | Journal of inherited metabolic disease |
| container_volume | 20 |
| creator | Hinnie, J. Colombo, J. P. Wermuth, B. Dryburgh, F. J. |
| description | |
| doi_str_mv | 10.1023/A:1005344507536 |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_79506156</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>79506156</sourcerecordid><originalsourceid>FETCH-LOGICAL-c3679-995e252c0ef05b50e66713b189d3dfce51fcdfdd4784a13a9f15bdae0cc8616e3</originalsourceid><addsrcrecordid>eNqFkL1OwzAUhS0EKqUwMyFlQGyhdpzrxGxV-SsqsMAcOfZ1CcpPiROhbDwCz8iTENSogonpDuf7zpUOIceMnjMa8OnsglEKPAyBRsDFDhkziLgfCAG7ZExZyPxYAuyTA-deKaUyBhiRkQyDiEE8JouHr4_Pmcamy1d526hCNei5rmxesFEOPYM20xmWuvNqdOuqNFm58prK06pOVfHLOiR7VuUOj4Y7Ic_XV0_zW3_5eLOYz5a-5iKSvpSAAQSaoqWQAkUhIsZTFkvDjdUIzGpjjQmjOFSMK2kZpEYh1ToWTCCfkLNN77qu3lp0TVJkTmOeqxKr1iWRBCoYiB6cbkBdV87VaJN1nRWq7hJGk5_xklnyZ7zeOBmq27RAs-WHtfr8dMiV0yq3tSp15rZYQGMeQ9BjsMHesxy7_74md4v7y96U_BvLTIgH</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>79506156</pqid></control><display><type>article</type><title>N‐Acetylglutamate synthetase deficiency responding to carbamylglutamate</title><source>MEDLINE</source><source>SpringerNature Journals</source><source>Access via Wiley Online Library</source><creator>Hinnie, J. ; Colombo, J. P. ; Wermuth, B. ; Dryburgh, F. J.</creator><creatorcontrib>Hinnie, J. ; Colombo, J. P. ; Wermuth, B. ; Dryburgh, F. J.</creatorcontrib><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1023/A:1005344507536</identifier><identifier>PMID: 9427158</identifier><identifier>CODEN: JIMDDP</identifier><language>eng</language><publisher>Dordrecht: Kluwer Academic Publishers</publisher><subject>Acetyltransferases - deficiency ; Amino-Acid N-Acetyltransferase ; Ammonia - blood ; Biological and medical sciences ; Brain Diseases - etiology ; Consanguinity ; Errors of metabolism ; Fever ; Glutamates - therapeutic use ; Humans ; Infant ; Male ; Medical sciences ; Metabolic diseases ; Paraplegia - etiology ; Proteins and glycoproteins</subject><ispartof>Journal of inherited metabolic disease, 1997-11, Vol.20 (6), p.839-840</ispartof><rights>1997 SSIEM</rights><rights>1998 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3679-995e252c0ef05b50e66713b189d3dfce51fcdfdd4784a13a9f15bdae0cc8616e3</citedby><cites>FETCH-LOGICAL-c3679-995e252c0ef05b50e66713b189d3dfce51fcdfdd4784a13a9f15bdae0cc8616e3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1023%2FA%3A1005344507536$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1023%2FA%3A1005344507536$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,781,785,1418,27929,27930,45579,45580</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2083852$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9427158$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hinnie, J.</creatorcontrib><creatorcontrib>Colombo, J. P.</creatorcontrib><creatorcontrib>Wermuth, B.</creatorcontrib><creatorcontrib>Dryburgh, F. J.</creatorcontrib><title>N‐Acetylglutamate synthetase deficiency responding to carbamylglutamate</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><subject>Acetyltransferases - deficiency</subject><subject>Amino-Acid N-Acetyltransferase</subject><subject>Ammonia - blood</subject><subject>Biological and medical sciences</subject><subject>Brain Diseases - etiology</subject><subject>Consanguinity</subject><subject>Errors of metabolism</subject><subject>Fever</subject><subject>Glutamates - therapeutic use</subject><subject>Humans</subject><subject>Infant</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Paraplegia - etiology</subject><subject>Proteins and glycoproteins</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkL1OwzAUhS0EKqUwMyFlQGyhdpzrxGxV-SsqsMAcOfZ1CcpPiROhbDwCz8iTENSogonpDuf7zpUOIceMnjMa8OnsglEKPAyBRsDFDhkziLgfCAG7ZExZyPxYAuyTA-deKaUyBhiRkQyDiEE8JouHr4_Pmcamy1d526hCNei5rmxesFEOPYM20xmWuvNqdOuqNFm58prK06pOVfHLOiR7VuUOj4Y7Ic_XV0_zW3_5eLOYz5a-5iKSvpSAAQSaoqWQAkUhIsZTFkvDjdUIzGpjjQmjOFSMK2kZpEYh1ToWTCCfkLNN77qu3lp0TVJkTmOeqxKr1iWRBCoYiB6cbkBdV87VaJN1nRWq7hJGk5_xklnyZ7zeOBmq27RAs-WHtfr8dMiV0yq3tSp15rZYQGMeQ9BjsMHesxy7_74md4v7y96U_BvLTIgH</recordid><startdate>199711</startdate><enddate>199711</enddate><creator>Hinnie, J.</creator><creator>Colombo, J. P.</creator><creator>Wermuth, B.</creator><creator>Dryburgh, F. J.</creator><general>Kluwer Academic Publishers</general><general>Springer</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>7X8</scope></search><sort><creationdate>199711</creationdate><title>N‐Acetylglutamate synthetase deficiency responding to carbamylglutamate</title><author>Hinnie, J. ; Colombo, J. P. ; Wermuth, B. ; Dryburgh, F. J.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3679-995e252c0ef05b50e66713b189d3dfce51fcdfdd4784a13a9f15bdae0cc8616e3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Acetyltransferases - deficiency</topic><topic>Amino-Acid N-Acetyltransferase</topic><topic>Ammonia - blood</topic><topic>Biological and medical sciences</topic><topic>Brain Diseases - etiology</topic><topic>Consanguinity</topic><topic>Errors of metabolism</topic><topic>Fever</topic><topic>Glutamates - therapeutic use</topic><topic>Humans</topic><topic>Infant</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Metabolic diseases</topic><topic>Paraplegia - etiology</topic><topic>Proteins and glycoproteins</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hinnie, J.</creatorcontrib><creatorcontrib>Colombo, J. P.</creatorcontrib><creatorcontrib>Wermuth, B.</creatorcontrib><creatorcontrib>Dryburgh, F. J.</creatorcontrib><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>MEDLINE - Academic</collection><jtitle>Journal of inherited metabolic disease</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hinnie, J.</au><au>Colombo, J. P.</au><au>Wermuth, B.</au><au>Dryburgh, F. J.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>N‐Acetylglutamate synthetase deficiency responding to carbamylglutamate</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>1997-11</date><risdate>1997</risdate><volume>20</volume><issue>6</issue><spage>839</spage><epage>840</epage><pages>839-840</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><coden>JIMDDP</coden><cop>Dordrecht</cop><pub>Kluwer Academic Publishers</pub><pmid>9427158</pmid><doi>10.1023/A:1005344507536</doi><tpages>2</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 0141-8955 |
| ispartof | Journal of inherited metabolic disease, 1997-11, Vol.20 (6), p.839-840 |
| issn | 0141-8955 1573-2665 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_79506156 |
| source | MEDLINE; SpringerNature Journals; Access via Wiley Online Library |
| subjects | Acetyltransferases - deficiency Amino-Acid N-Acetyltransferase Ammonia - blood Biological and medical sciences Brain Diseases - etiology Consanguinity Errors of metabolism Fever Glutamates - therapeutic use Humans Infant Male Medical sciences Metabolic diseases Paraplegia - etiology Proteins and glycoproteins |
| title | N‐Acetylglutamate synthetase deficiency responding to carbamylglutamate |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2024-12-11T17%3A30%3A01IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=N%E2%80%90Acetylglutamate%20synthetase%20deficiency%20responding%20to%20carbamylglutamate&rft.jtitle=Journal%20of%20inherited%20metabolic%20disease&rft.au=Hinnie,%20J.&rft.date=1997-11&rft.volume=20&rft.issue=6&rft.spage=839&rft.epage=840&rft.pages=839-840&rft.issn=0141-8955&rft.eissn=1573-2665&rft.coden=JIMDDP&rft_id=info:doi/10.1023/A:1005344507536&rft_dat=%3Cproquest_cross%3E79506156%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=79506156&rft_id=info:pmid/9427158&rfr_iscdi=true |