{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:37:12Z","timestamp":1762004232075,"version":"build-2065373602"},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2010,2,19]],"date-time":"2010-02-19T00:00:00Z","timestamp":1266537600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["NMR in Biomedicine"],"published-print":{"date-parts":[[2010,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Adenylosuccinate lyase (ADSL) deficiency is an inherited metabolic disorder affecting predominantly the central nervous system. The disease is characterized by the accumulation of succinylaminoimidazolecarboxamide riboside and succinyladenosine (S\u2010Ado) in tissue and body fluids. Three children presented with muscular hypotonia, psychomotor delay, behavioral abnormalities, and white matter changes on brain MRI. Two of them were affected by seizures. Screening for inborn errors of metabolism including <jats:italic>in vitro<\/jats:italic> high resolution proton MRS revealed an ADSL deficiency that was confirmed genetically in all cases. All patients were studied by <jats:italic>in vivo<\/jats:italic> proton MRS. <jats:italic>In vitro<\/jats:italic> high resolution proton MRS of patient cerebrospinal fluid showed singlet resonances at 8.27 and 8.29\u2009ppm that correspond to accumulated S\u2010Ado. <jats:italic>In vivo<\/jats:italic> proton MRS measurements also revealed a prominent signal at 8.3\u2009ppm in gray and white matter brain regions of all patients. The resonance was undetectable in healthy human brain. <jats:italic>In vivo<\/jats:italic> proton MRS provides a conclusive finding in ADSL deficiency and represents a reliable noninvasive diagnostic tool for this neurometabolic disorder. Copyright \u00a9 2010 John Wiley &amp; Sons, Ltd.<\/jats:p>","DOI":"10.1002\/nbm.1480","type":"journal-article","created":{"date-parts":[[2010,2,19]],"date-time":"2010-02-19T09:52:14Z","timestamp":1266573134000},"page":"441-445","source":"Crossref","is-referenced-by-count":12,"title":["<i>In vivo<\/i> proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency"],"prefix":"10.1002","volume":"23","author":[{"given":"M.","family":"Henneke","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S.","family":"Dreha\u2010Kulaczewski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K.","family":"Brockmann","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"van der Graaf","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M. A. A. 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