Incidence of maple syrup urine disease in Portugal
Maple syrup urine disease is an autosomal recessive disorder of branched-chain amino acids metabolism with a worldwide frequency of 1/185,000 live newborns. In Portugal, the incidence of the disease has not been assessed. Based on the review of the cases diagnosed by tandem mass spectrometry an inci...
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| Veröffentlicht in: | Molecular genetics and metabolism 2010-08, Vol.100 (4), p.385-387 |
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| creator | Quental, Sofia Vilarinho, Laura Martins, Esmeralda Teles, Elisa Leão Rodrigues, Esmeralda Diogo, Luísa Garcia, Paula Eusébio, Filomena Gaspar, Ana Sequeira, Sílvia Amorim, António Prata, Maria João |
| description | Maple syrup urine disease is an autosomal recessive disorder of branched-chain amino acids metabolism with a worldwide frequency of 1/185,000 live newborns. In Portugal, the incidence of the disease has not been assessed. Based on the review of the cases diagnosed by tandem mass spectrometry an incidence of 1/86,800 live newborns was estimated in Portugal, indicating that the disease is more frequent in this country than reported in most populations. |
| doi_str_mv | 10.1016/j.ymgme.2010.04.007 |
| format | Article |
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In Portugal, the incidence of the disease has not been assessed. Based on the review of the cases diagnosed by tandem mass spectrometry an incidence of 1/86,800 live newborns was estimated in Portugal, indicating that the disease is more frequent in this country than reported in most populations.</description><identifier>ISSN: 1096-7192</identifier><identifier>EISSN: 1096-7206</identifier><identifier>DOI: 10.1016/j.ymgme.2010.04.007</identifier><identifier>PMID: 20466570</identifier><language>eng</language><publisher>United States: Elsevier Inc</publisher><subject>Adolescent ; Adult ; Amino acids ; Child ; Humans ; Incidence ; Infant, Newborn ; Maple syrup urine disease ; Maple Syrup Urine Disease - diagnosis ; Maple Syrup Urine Disease - epidemiology ; Neonatal Screening ; Portugal ; Portugal - epidemiology ; Young Adult</subject><ispartof>Molecular genetics and metabolism, 2010-08, Vol.100 (4), p.385-387</ispartof><rights>2010 Elsevier Inc.</rights><rights>Copyright 2010 Elsevier Inc. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c390t-e1dfd59b0a030c6dc6d062863532f157ee810b97747dd4826396dca68aa2163d3</citedby><cites>FETCH-LOGICAL-c390t-e1dfd59b0a030c6dc6d062863532f157ee810b97747dd4826396dca68aa2163d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S1096719210001526$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20466570$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Quental, Sofia</creatorcontrib><creatorcontrib>Vilarinho, Laura</creatorcontrib><creatorcontrib>Martins, Esmeralda</creatorcontrib><creatorcontrib>Teles, Elisa Leão</creatorcontrib><creatorcontrib>Rodrigues, Esmeralda</creatorcontrib><creatorcontrib>Diogo, Luísa</creatorcontrib><creatorcontrib>Garcia, Paula</creatorcontrib><creatorcontrib>Eusébio, Filomena</creatorcontrib><creatorcontrib>Gaspar, Ana</creatorcontrib><creatorcontrib>Sequeira, Sílvia</creatorcontrib><creatorcontrib>Amorim, António</creatorcontrib><creatorcontrib>Prata, Maria João</creatorcontrib><title>Incidence of maple syrup urine disease in Portugal</title><title>Molecular genetics and metabolism</title><addtitle>Mol Genet Metab</addtitle><description>Maple syrup urine disease is an autosomal recessive disorder of branched-chain amino acids metabolism with a worldwide frequency of 1/185,000 live newborns. In Portugal, the incidence of the disease has not been assessed. Based on the review of the cases diagnosed by tandem mass spectrometry an incidence of 1/86,800 live newborns was estimated in Portugal, indicating that the disease is more frequent in this country than reported in most populations.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Amino acids</subject><subject>Child</subject><subject>Humans</subject><subject>Incidence</subject><subject>Infant, Newborn</subject><subject>Maple syrup urine disease</subject><subject>Maple Syrup Urine Disease - diagnosis</subject><subject>Maple Syrup Urine Disease - epidemiology</subject><subject>Neonatal Screening</subject><subject>Portugal</subject><subject>Portugal - epidemiology</subject><subject>Young Adult</subject><issn>1096-7192</issn><issn>1096-7206</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1Lw0AQhhdRbK3-AkFy85Q4-5FNcvAgxY9CQQ96Xra7k7IlX-4mQv-9qW09KgzMMDzvDDyEXFNIKFB5t0m29brGhMG4AZEAZCdkSqGQccZAnh5nWrAJuQhhA0BpWohzMmEgpEwzmBK2aIyz2BiM2jKqdVdhFLZ-6KLBuwYj6wLqgJFrorfW98NaV5fkrNRVwKtDn5GPp8f3-Uu8fH1ezB-WseEF9DFSW9q0WIEGDkbasUCyXPKUs5KmGWJOYVVkmcisFTmTvBghLXOtGZXc8hm53d_tfPs5YOhV7YLBqtINtkNQWSryHFJa_E9yAcCZSEeS70nj2xA8lqrzrtZ-qyionVW1UT9W1c6qAqFGq2Pq5nB_WNVofzNHjSNwvwdw9PHl0Ktg3E6qdR5Nr2zr_nzwDRUCh4M</recordid><startdate>20100801</startdate><enddate>20100801</enddate><creator>Quental, Sofia</creator><creator>Vilarinho, Laura</creator><creator>Martins, Esmeralda</creator><creator>Teles, Elisa Leão</creator><creator>Rodrigues, Esmeralda</creator><creator>Diogo, Luísa</creator><creator>Garcia, Paula</creator><creator>Eusébio, Filomena</creator><creator>Gaspar, Ana</creator><creator>Sequeira, Sílvia</creator><creator>Amorim, António</creator><creator>Prata, Maria João</creator><general>Elsevier Inc</general><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><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20100801</creationdate><title>Incidence of maple syrup urine disease in Portugal</title><author>Quental, Sofia ; 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| fulltext | fulltext |
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| ispartof | Molecular genetics and metabolism, 2010-08, Vol.100 (4), p.385-387 |
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| language | eng |
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| source | MEDLINE; Elsevier ScienceDirect Journals |
| subjects | Adolescent Adult Amino acids Child Humans Incidence Infant, Newborn Maple syrup urine disease Maple Syrup Urine Disease - diagnosis Maple Syrup Urine Disease - epidemiology Neonatal Screening Portugal Portugal - epidemiology Young Adult |
| title | Incidence of maple syrup urine disease in Portugal |
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