Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D‐ and L‐2 hydroxyglutaric aciduria
Summary We report the fourth case of combined d‐and L‐2‐hydroxyglutaric aciduria presenting with neonatal encephalopathy and subependymal cysts.
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| Veröffentlicht in: | Journal of inherited metabolic disease 2005-12, Vol.28 (6), p.1149-1150 |
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| container_issue | 6 |
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| container_title | Journal of inherited metabolic disease |
| container_volume | 28 |
| creator | Read, M.‐H. Bonamy, C. Laloum, D. Belloy, F. Constans, J. M. Guillois, B. Kottler, M.‐L. Verhoeven, N. M. Jakobs, C. |
| description | Summary
We report the fourth case of combined d‐and L‐2‐hydroxyglutaric aciduria presenting with neonatal encephalopathy and subependymal cysts. |
| doi_str_mv | 10.1007/s10545-005-4565-x |
| format | Article |
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We report the fourth case of combined d‐and L‐2‐hydroxyglutaric aciduria presenting with neonatal encephalopathy and subependymal cysts.</description><identifier>ISSN: 0141-8955</identifier><identifier>EISSN: 1573-2665</identifier><identifier>DOI: 10.1007/s10545-005-4565-x</identifier><identifier>PMID: 16435212</identifier><identifier>CODEN: JIMDDP</identifier><language>eng</language><publisher>Dordrecht: Kluwer Academic Publishers</publisher><subject>Biological and medical sciences ; Brain - pathology ; Brain Diseases, Metabolic, Inborn - diagnosis ; Brain Diseases, Metabolic, Inborn - metabolism ; Cysts - diagnosis ; Electroencephalography ; Fatal Outcome ; Female ; Fumarates - blood ; Glutarates - metabolism ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging - methods ; Magnetic Resonance Spectroscopy - methods ; Male ; Malonates - blood ; Medical genetics ; Medical sciences ; Metabolic diseases ; Muscle Hypotonia ; Seizures ; Stereoisomerism</subject><ispartof>Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.1149-1150</ispartof><rights>2005 SSIEM</rights><rights>2006 INIST-CNRS</rights><rights>SSIEM and Springer 2005</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5139-b4efe54fa79dc37df87dbc00b410415fa5e58c4ab6f635344eecf1de3080a0ce3</citedby><cites>FETCH-LOGICAL-c5139-b4efe54fa79dc37df87dbc00b410415fa5e58c4ab6f635344eecf1de3080a0ce3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1007%2Fs10545-005-4565-x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1007%2Fs10545-005-4565-x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,776,780,1411,27901,27902,45550,45551</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=17465119$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16435212$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Read, M.‐H.</creatorcontrib><creatorcontrib>Bonamy, C.</creatorcontrib><creatorcontrib>Laloum, D.</creatorcontrib><creatorcontrib>Belloy, F.</creatorcontrib><creatorcontrib>Constans, J. M.</creatorcontrib><creatorcontrib>Guillois, B.</creatorcontrib><creatorcontrib>Kottler, M.‐L.</creatorcontrib><creatorcontrib>Verhoeven, N. M.</creatorcontrib><creatorcontrib>Jakobs, C.</creatorcontrib><title>Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D‐ and L‐2 hydroxyglutaric aciduria</title><title>Journal of inherited metabolic disease</title><addtitle>J Inherit Metab Dis</addtitle><description>Summary
We report the fourth case of combined d‐and L‐2‐hydroxyglutaric aciduria presenting with neonatal encephalopathy and subependymal cysts.</description><subject>Biological and medical sciences</subject><subject>Brain - pathology</subject><subject>Brain Diseases, Metabolic, Inborn - diagnosis</subject><subject>Brain Diseases, Metabolic, Inborn - metabolism</subject><subject>Cysts - diagnosis</subject><subject>Electroencephalography</subject><subject>Fatal Outcome</subject><subject>Female</subject><subject>Fumarates - blood</subject><subject>Glutarates - metabolism</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Magnetic Resonance Imaging - methods</subject><subject>Magnetic Resonance Spectroscopy - methods</subject><subject>Male</subject><subject>Malonates - blood</subject><subject>Medical genetics</subject><subject>Medical sciences</subject><subject>Metabolic diseases</subject><subject>Muscle Hypotonia</subject><subject>Seizures</subject><subject>Stereoisomerism</subject><issn>0141-8955</issn><issn>1573-2665</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><recordid>eNqFkd2K1DAUx4so7rj6AN5IEJRdsJrTJv24lFl1R2YQVr0OaXoyk6VNZpMWp3c-gq_j6_gkZu3Agghe5YNf_ifn_JLkKdDXQGn5JgDljKeU8pTxgqeHe8kCeJmnWVHw-8mCAoO0qjk_SR6FcE0prSvOHyYnULCcZ5Atkp_LzlijZPeKNMapHfbzoZdbi4NRxGNwVlqFxMQ7Y7fkbHO1OifStmTv3eDsv9iwRzV4F5TbT-QMLsnm6vM50ca2MSEQY4kk2o1-2BElAxKniXJ9Yyy25OLX9x9_4tdxk5Hd1Hp3mLbdOEgfi0hl2tEb-Th5oGUX8MlxPU2-vn_3ZXmZrj99WC3frlPFIa_ThqFGzrQs61blZaursm0UpQ0DyoBryZFXismm0EXOc8YQlYYWc1pRSRXmp8nLOTd2ezNiGERvgsKukxbdGERR0ypG0Qg-_wu8jh3a-DeRQVXWAGURIZghFacTPGqx93GwfhJAxa1UMUsVUaq4lSoO8c2zY_DY9NjevThajMCLIyBDtKd9dGDCHVeyggPUkStn7pvpcPp_ZfFxtbkAYHX-G-GLvog</recordid><startdate>200512</startdate><enddate>200512</enddate><creator>Read, M.‐H.</creator><creator>Bonamy, C.</creator><creator>Laloum, D.</creator><creator>Belloy, F.</creator><creator>Constans, J. 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M. ; Guillois, B. ; Kottler, M.‐L. ; Verhoeven, N. 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M.</creatorcontrib><creatorcontrib>Guillois, B.</creatorcontrib><creatorcontrib>Kottler, M.‐L.</creatorcontrib><creatorcontrib>Verhoeven, N. 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M.</au><au>Guillois, B.</au><au>Kottler, M.‐L.</au><au>Verhoeven, N. M.</au><au>Jakobs, C.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D‐ and L‐2 hydroxyglutaric aciduria</atitle><jtitle>Journal of inherited metabolic disease</jtitle><addtitle>J Inherit Metab Dis</addtitle><date>2005-12</date><risdate>2005</risdate><volume>28</volume><issue>6</issue><spage>1149</spage><epage>1150</epage><pages>1149-1150</pages><issn>0141-8955</issn><eissn>1573-2665</eissn><coden>JIMDDP</coden><abstract>Summary
We report the fourth case of combined d‐and L‐2‐hydroxyglutaric aciduria presenting with neonatal encephalopathy and subependymal cysts.</abstract><cop>Dordrecht</cop><pub>Kluwer Academic Publishers</pub><pmid>16435212</pmid><doi>10.1007/s10545-005-4565-x</doi><tpages>2</tpages><oa>free_for_read</oa></addata></record> |
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| identifier | ISSN: 0141-8955 |
| ispartof | Journal of inherited metabolic disease, 2005-12, Vol.28 (6), p.1149-1150 |
| issn | 0141-8955 1573-2665 |
| language | eng |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete; SpringerLink Journals - AutoHoldings |
| subjects | Biological and medical sciences Brain - pathology Brain Diseases, Metabolic, Inborn - diagnosis Brain Diseases, Metabolic, Inborn - metabolism Cysts - diagnosis Electroencephalography Fatal Outcome Female Fumarates - blood Glutarates - metabolism Humans Infant, Newborn Magnetic Resonance Imaging - methods Magnetic Resonance Spectroscopy - methods Male Malonates - blood Medical genetics Medical sciences Metabolic diseases Muscle Hypotonia Seizures Stereoisomerism |
| title | Clinical, biochemical, magnetic resonance imaging (MRI) and proton magnetic resonance spectroscopy (1H MRS) findings in a fourth case of combined D‐ and L‐2 hydroxyglutaric aciduria |
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