{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:48:07Z","timestamp":1786978087426,"version":"build-2736575974"},"reference-count":23,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2012,10,10]],"date-time":"2012-10-10T00:00:00Z","timestamp":1349827200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Magnetic Resonance Imaging"],"published-print":{"date-parts":[[2013,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Adenylosuccinate lyase (ADSL) deficiency is a rare inborn error of metabolism resulting in accumulation of metabolites including succinylaminoimidazole carboxamide riboside (SAICAr) and succinyladenosine (S\u2010Ado) in the brain and other tissues. Patients with ADSL have progressive psychomotor retardation, neonatal seizures, global developmental delay, hypotonia, and autistic features, although variable clinical manifestations may make the initial diagnosis challenging. Two cases of the severe form of the disease are reported here: an 18\u2010month\u2010old boy with global developmental delay, intractable neonatal seizures, progressive cerebral atrophy, and marked hypomyelination, and a 3\u2010month\u2010old girl presenting with microcephaly, neonatal seizures, and marked psychomotor retardation. In both patients in vivo proton magnetic resonance spectroscopy (MRS) showed the presence of S\u2010Ado signal at 8.3 ppm, consistent with a prior report. Interestingly, SAICAr signal was also detectable at 7.5 ppm in affected white matter, which has not been reported in vivo before. A novel splice\u2010site mutation, c.IVS12 + 1\/G &gt; C, in the\n                    <jats:italic>ADSL<\/jats:italic>\n                    gene was identified in the second patient. Our findings confirm the utility of in vivo proton MRS in suggesting a specific diagnosis of ADSL deficiency, and also demonstrate an additional in vivo resonance (7.5 ppm) of SAICAr in the cases of severe disease. J. Magn. Reson. Imaging 2013;37:974\u2013980. \u00a9 2012 Wiley Periodicals, Inc.\n                  <\/jats:p>","DOI":"10.1002\/jmri.23852","type":"journal-article","created":{"date-parts":[[2012,10,11]],"date-time":"2012-10-11T07:18:19Z","timestamp":1349939899000},"page":"974-980","source":"Crossref","is-referenced-by-count":10,"title":["Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency"],"prefix":"10.1002","volume":"37","author":[{"given":"Maria","family":"Zulfiqar","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Doris D.M.","family":"Lin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marinette","family":"Van der Graaf","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter B.","family":"Barker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Fahrner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandrine","family":"Marie","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva","family":"Morava","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lonneke","family":"De Boer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel A.A.P.","family":"Willemsen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eileen","family":"Vining","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alena","family":"Horsk\u00e1","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Udo","family":"Engelke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ron A.","family":"Wevers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gustavo H.B.","family":"Maegawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2012,10,10]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005304722259"},{"key":"e_1_2_5_3_2","first-page":"1058","article-title":"An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids","volume":"2","author":"Jaeken J","year":"1984","journal-title":"Lancet"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.174"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:3<197::AID-HUMU3>3.0.CO;2-D"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00710291"},{"key":"e_1_2_5_7_2","doi-asserted-by":"publisher","DOI":"10.1159\/000133575"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00445919"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2008.04.013"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1177\/088307380101600501"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-011-1503-9"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/0003-2697(86)90158-2"},{"issue":"1","key":"e_1_2_5_13_2","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1258\/000456303321016132","article-title":"Proton nuclear magnetic resonance spectroscopy of body fluids in the field of inborn errors of metabolism","volume":"40","author":"Moolenaar SH","year":"2003","journal-title":"Ann Clin Biochem"},{"key":"e_1_2_5_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/clinchem\/45.4.539"},{"key":"e_1_2_5_15_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi802321m"},{"key":"e_1_2_5_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/nbm.1480"},{"key":"e_1_2_5_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.10.1501"},{"key":"e_1_2_5_18_2","doi-asserted-by":"publisher","DOI":"10.1002\/mrm.1910300604"},{"key":"e_1_2_5_19_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1522-2594(200005)43:5<665::AID-MRM8>3.0.CO;2-3"},{"key":"e_1_2_5_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/mrm.22813"},{"key":"e_1_2_5_21_2","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A1106"},{"key":"e_1_2_5_22_2","doi-asserted-by":"publisher","DOI":"10.1055\/s-2006-924734"},{"key":"e_1_2_5_23_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.8.1668"},{"key":"e_1_2_5_24_2","first-page":"806","volume-title":"Clinical MR neuroimaging: diffusion, perfusion, and spectroscopy","author":"Gillard JH","year":"2010"}],"container-title":["Journal of Magnetic Resonance Imaging"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fjmri.23852","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/jmri.23852","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T12:38:29Z","timestamp":1696855109000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/jmri.23852"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2012,10,10]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2013,4]]}},"alternative-id":["10.1002\/jmri.23852"],"URL":"https:\/\/doi.org\/10.1002\/jmri.23852","archive":["Portico"],"relation":{},"ISSN":["1053-1807","1522-2586"],"issn-type":[{"value":"1053-1807","type":"print"},{"value":"1522-2586","type":"electronic"}],"subject":[],"published":{"date-parts":[[2012,10,10]]}}}