{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T14:25:18Z","timestamp":1786976718786,"version":"build-2736575974"},"reference-count":15,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2011,9,9]],"date-time":"2011-09-09T00:00:00Z","timestamp":1315526400000},"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":[[2011,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>\n                    Cobalamin F disease (cblF) is a rare disorder of intracellular cobalamin metabolism resulting in failure to thrive, recurrent stomatitis, skin rash, megaloblastic anemia, hypotonia, seizures, and intellectual disability. Data on long\u2010term outcomes are not available. We report on the outcome of a patient with cblF disease with a frameshift mutation in the\n                    <jats:italic>LMBRD1<\/jats:italic>\n                    gene after 18 years of intramuscular hydroxycobalamin treatment. \u00a9 2011 Wiley\u2010Liss, Inc.\n                  <\/jats:p>","DOI":"10.1002\/ajmg.a.34220","type":"journal-article","created":{"date-parts":[[2011,9,9]],"date-time":"2011-09-09T22:44:29Z","timestamp":1315608269000},"page":"2571-2577","source":"Crossref","is-referenced-by-count":18,"title":["Eighteen\u2010year follow\u2010up of a patient with cobalamin F disease (cblF): Report and review"],"prefix":"10.1002","volume":"155","author":[{"given":"Majid","family":"Alfadhel","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yolanda P.","family":"Lillquist","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cynthia","family":"Davis","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne K.","family":"Junker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylvia","family":"Stockler\u2010Ipsiroglu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2011,9,9]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0009-9120(79)80084-3"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(73)90069-3"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1177\/0148607104028005348"},{"key":"e_1_2_5_5_1","doi-asserted-by":"crossref","first-page":"697","DOI":"10.1016\/S0308-2261(21)00116-8","article-title":"Vitamin B12\u2010folate interrelations","volume":"5","author":"Das KC","year":"1976","journal-title":"Clin Haematol"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-124-3-199602010-00003"},{"key":"e_1_2_5_7_1","first-page":"A353","article-title":"Clinical heterogeneity in two patients with cblF disease","volume":"51","author":"MacDonald MR","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.4001945"},{"key":"e_1_2_5_9_1","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1542\/peds.78.1.51","article-title":"New disorder of vitamin B12 metabolism (cobalamin F) presenting as methylmalonic aciduria","volume":"8","author":"Rosenblatt DS","year":"1986","journal-title":"Pediatrics"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.294"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(81)90649-8"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330431"},{"key":"e_1_2_5_13_1","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2249.1999.00870.x"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4827(91)90376-6"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19981012)79:5<373::AID-AJMG8>3.0.CO;2-K"},{"key":"e_1_2_5_16_1","first-page":"A111","article-title":"Diagnosis and treatment of a child with cblF disease","volume":"15","author":"Wong LTK","year":"1992","journal-title":"Clin Invest Med"}],"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.34220","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.34220","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T10:32:17Z","timestamp":1697625137000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.34220"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011,9,9]]},"references-count":15,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2011,10]]}},"alternative-id":["10.1002\/ajmg.a.34220"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.34220","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2011,9,9]]}}}