{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T06:43:12Z","timestamp":1781073792453,"version":"3.54.1"},"reference-count":16,"publisher":"Wiley","issue":"S3","license":[{"start":{"date-parts":[[2008,1,22]],"date-time":"2008-01-22T00:00:00Z","timestamp":1200960000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100007185","name":"University of California, Los Angeles","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100007185","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2008,12]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We report a 24\u2010year\u2010old patient with underlying classical homocystinuria who developed acute neurological deterioration apparently induced by malnutrition secondary to poor compliance with treatment and pancreatitis. Neurological examination revealed stupor, tremor of the upper extremities, spasticity, and Babinski responses of the bilateral lower extremities. The biochemical profile, including marked hypermethioninaemia, hyperhomocysteinaemia, and decreased cystine in plasma, is consistent with cystathionine \u03b2\u2010synthase deficiency. Brain MRI showed reversible diffuse white\u2010matter changes without evidence of thrombosis. The clinical features and neuroimaging including diffusion\u2010weighted MRI suggest a demyelinating process similar to other inborn errors of the transsulfuration pathway such as methylenetetrahydrofolate reductase deficiency, disorders affecting methylcobalamin metabolism (cobalamin C, D, E, and G disorders), and methionine adenosyltransferase deficiency. She was left with residual spastic paraparesis despite normal follow\u2010up MRI. Our observation suggests that reversible demyelination is another neurological manifestation of classical homocystinuria; however, the pathophysiology is unknown.<\/jats:p>","DOI":"10.1007\/s10545-007-0791-8","type":"journal-article","created":{"date-parts":[[2008,1,21]],"date-time":"2008-01-21T08:21:32Z","timestamp":1200903692000},"page":"477-481","source":"Crossref","is-referenced-by-count":18,"title":["Reversible leukoencephalopathy with acute neurological deterioration and permanent residua in classical homocystinuria: A case report"],"prefix":"10.1002","volume":"31","author":[{"given":"N.","family":"Vatanavicharn","sequence":"first","affiliation":[{"name":"Medical Genetics Institute Cedars\u2010Sinai Medical Center 8635 W. Third Street, Suite 1150 W Los Angeles CA 90048 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"B. D.","family":"Pressman","sequence":"additional","affiliation":[{"name":"Department of Imaging, Section of Neuroradiology &amp; Head and Neck Radiology, S. Mark Taper Foundation Imaging Center Cedars\u2010Sinai Medical Center Los Angeles CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W. R.","family":"Wilcox","sequence":"additional","affiliation":[{"name":"Medical Genetics Institute Cedars\u2010Sinai Medical Center 8635 W. Third Street, Suite 1150 W Los Angeles CA 90048 USA"},{"name":"Department of Pediatrics UCLA School of Medicine Los Angeles CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,1,22]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(93)90198-W"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2003.12.041"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0049-3848(97)00145-X"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s007260200000"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.38.3.459"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310051054"},{"key":"e_1_2_5_8_1","first-page":"2007","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Mudd SH","year":"2001"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000009963.88420.c2"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00330-005-2846-2"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1159\/000055846"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-007-9052-7"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014296"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0021-9150(94)05516-L"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1152\/ajpregu.00036.2004"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10186"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A0544"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-007-0791-8","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T04:29:49Z","timestamp":1694752189000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-007-0791-8"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,1,22]]},"references-count":16,"journal-issue":{"issue":"S3","published-print":{"date-parts":[[2008,12]]}},"alternative-id":["10.1007\/s10545-007-0791-8"],"URL":"https:\/\/doi.org\/10.1007\/s10545-007-0791-8","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,1,22]]}}}