{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T23:00:47Z","timestamp":1790550047048,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"20","license":[{"start":{"date-parts":[[2007,9,12]],"date-time":"2007-09-12T00:00:00Z","timestamp":1189555200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2007,10,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on the case of a 36\u2010year\u2010old Hispanic woman with a spinal cord infarct, who was subsequently diagnosed with methylmalonic aciduria and homocystinuria, cblC type (<jats:italic>cblC<\/jats:italic>). Mutation analysis revealed c.271dupA and c.482G\u2009&gt;\u2009A mutations in the <jats:italic>MMACHC<\/jats:italic> gene. The patient had a past medical history significant for joint hypermobility, arthritis, bilateral cataracts, unilateral hearing loss, anemia, frequent urinary tract infections, and mental illness. There was no significant past history of mental retardation, failure to thrive, or seizure disorder as reported in classic cases of <jats:italic>cblC<\/jats:italic>. Prior to the thrombotic incident, the patient experienced increased paresthesia in the lower extremities, myelopathy, and impaired gait. Given her previous psychiatric history, she was misdiagnosed with malingering until hemiplegia and incontinence became apparent. The authors would like to emphasize the recognition of a neuropsychiatric presentation in late onset <jats:italic>cblC<\/jats:italic>. Ten other reported late onset cases with similar presentations are also reviewed. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31932","type":"journal-article","created":{"date-parts":[[2007,9,12]],"date-time":"2007-09-12T21:47:22Z","timestamp":1189633642000},"page":"2430-2434","source":"Crossref","is-referenced-by-count":55,"title":["Late\u2010onset combined homocystinuria and methylmalonic aciduria (<i>cblC<\/i>) and neuropsychiatric disturbance"],"prefix":"10.1002","volume":"143A","author":[{"given":"Anne Chun\u2010Hui","family":"Tsai","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantal F.","family":"Morel","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gunter","family":"Scharer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jordan P.","family":"Lerner\u2010Ellis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David S.","family":"Rosenblatt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet A.","family":"Thomas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2007,9,12]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/PL00014295"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005508620919"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.56.8.1113"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000158476.74580.A8"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.60.1.107"},{"key":"e_1_2_4_7_1","first-page":"468","article-title":"Methylmalonic acid and homocystinuria (cobalamin C mutant disease) presenting as acute paraparesis in an adolescent","volume":"30","author":"Kazimiroff PB","year":"1991","journal-title":"Ann Neurol"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1683"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2006.04.001"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.78"},{"key":"e_1_2_4_11_1","first-page":"3897","volume-title":"The metabolic and molecular bases of inherited disease","author":"Rosenblatt DS","year":"2001"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.60.10.1457"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198408163110707"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31932","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31932","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T01:40:40Z","timestamp":1697593240000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31932"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,9,12]]},"references-count":12,"journal-issue":{"issue":"20","published-print":{"date-parts":[[2007,10,15]]}},"alternative-id":["10.1002\/ajmg.a.31932"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31932","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,9,12]]}}}