{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,3]],"date-time":"2026-05-03T09:57:07Z","timestamp":1777802227486,"version":"3.51.4"},"reference-count":14,"publisher":"SAGE Publications","issue":"5","license":[{"start":{"date-parts":[[2001,5,1]],"date-time":"2001-05-01T00:00:00Z","timestamp":988675200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Child Neurol"],"published-print":{"date-parts":[[2001,5]]},"abstract":"<jats:p>\n                    The late-onset form of GM2 gangliosidosis (Tay-Sachs disease) is an autosomal-recessive disorder with progressive neurologic disease, mainly characterized by motor neuron and spinocerebellar dysfunction. The majority of patients are of Ashkenazi Jewish origin.\n                    <jats:sup>31<\/jats:sup>\n                    Phosphorus magnetic resonance spectroscopy of the brain was performed to study the metabolic changes of a 16-year-old patient with late-onset Tay-Sachs disease who had a heterozygous Gly\n                    <jats:sup>269<\/jats:sup>\n                    \u2192 Ser mutation in the hexosaminidase A encoding gene in compound heterozygosity with another, yet unidentified mutation. Severe changes in phosphorus metabolism with a decreased amount of phosphodiesters and membrane-bound phosphates were demonstrated, suggesting an activation of phosphodiesterases by accumulating gangliosides. The clinical findings were well related to the changes in spectroscopically determined metabolites. (J Child Neurol 2001;16:377-380).\n                  <\/jats:p>","DOI":"10.1177\/088307380101600514","type":"journal-article","created":{"date-parts":[[2008,3,31]],"date-time":"2008-03-31T18:40:10Z","timestamp":1206988810000},"page":"377-380","source":"Crossref","is-referenced-by-count":8,"title":["31Phosphorus Magnetic Resonance Spectroscopy in Late-Onset Tay-Sachs Disease"],"prefix":"10.1177","volume":"16","author":[{"given":"Ursula","family":"Felderhoff-Mueser","sequence":"first","affiliation":[{"name":"Department of Neonatology Charit\u00e9 Children's Hospital Humboldt University Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J\u00fcrgen","family":"Sperner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Medical University of Luebeck Luebeck, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paul","family":"Konstanzcak","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Medical University of Luebeck Luebeck, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruth","family":"Navon","sequence":"additional","affiliation":[{"name":"Department of Human Genetics Sackler School of Medicine Tel Aviv, Israel"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bernhard","family":"Weschke","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Charit\u00e9 Children's Hospital Humboldt University Berlin, Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2001,5,1]]},"reference":[{"key":"atypb1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1997)9:3<195::AID-HUMU1>3.0.CO;2-7"},{"key":"atypb2","unstructured":"Gravel RA, Clark Jtr, Kaback MM, et al. The GM2 gangliosidoses, in Scriver CR, Beaudet AL, Sly WS, Valle D (eds): The Metabolic and Molecular Basis of Inherited Disease. New York, McGraw-Hill, 1995, 2839-2879."},{"key":"atypb3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240123"},{"key":"atypb4","doi-asserted-by":"publisher","DOI":"10.1126\/science.2522679"},{"key":"atypb5","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.5.831"},{"key":"atypb6","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1987.tb32915.x"},{"key":"atypb7","first-page":"172","volume":"11","author":"Champbell ID","year":"1973","journal-title":"J Magn Reson"},{"key":"atypb8","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.43.10.2055"},{"key":"atypb9","doi-asserted-by":"publisher","DOI":"10.1097\/00004728-199607000-00009"},{"key":"atypb10","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410310211"},{"key":"atypb11","doi-asserted-by":"publisher","DOI":"10.1016\/0361-9230(90)90297-D"},{"key":"atypb12","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1992.tb08460.x"},{"key":"atypb13","doi-asserted-by":"publisher","DOI":"10.1055\/s-2007-973571"},{"key":"atypb14","first-page":"1373","volume":"19","author":"Seitz D.","year":"1998","journal-title":"AJNR Am J Neuroradiol"}],"container-title":["Journal of Child Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/088307380101600514","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/088307380101600514","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T20:32:14Z","timestamp":1777494734000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/088307380101600514"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,5]]},"references-count":14,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2001,5]]}},"alternative-id":["10.1177\/088307380101600514"],"URL":"https:\/\/doi.org\/10.1177\/088307380101600514","relation":{},"ISSN":["0883-0738","1708-8283"],"issn-type":[{"value":"0883-0738","type":"print"},{"value":"1708-8283","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,5]]}}}