{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T01:20:44Z","timestamp":1787793644791,"version":"build-2784847793"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2022,2,14]],"date-time":"2022-02-14T00:00:00Z","timestamp":1644796800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2022,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This case report describes a patient with early\u2010onset cobalamin C deficiency who was started on treatment with high\u2010dose parenteral hydroxocobalamin after diagnosis at 13\u00a0days of life. Prior to diagnosis, initial presenting symptoms included poor feeding, lethargy, apneic episodes, hypothermia, and hypotonia; these symptoms resolved after initiation of medication. Methylmalonic acid and homocysteine levels were trended and significantly improved with treatment. She was maintained on 2\u00a0mg\/kg\/day dosing of hydroxocobalamin. No adverse effects to treatment were observed. At the time of this report, the patient was 19\u00a0months of age; she had not manifested common findings of early\u2010onset cobalamin C deficiency, including microcephaly, poor feeding, growth abnormalities, hypotonia, seizures, maculopathy, or neurodevelopmental delay. This report suggests that early initiation of high\u2010dose hydroxocobalamin is safe and effective.<\/jats:p>","DOI":"10.1002\/ajmg.a.62687","type":"journal-article","created":{"date-parts":[[2022,2,14]],"date-time":"2022-02-14T12:29:02Z","timestamp":1644841742000},"page":"1831-1835","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":12,"title":["Clinical and biochemical outcomes in cobalamin C deficiency with use of high\u2010dose hydroxocobalamin in the early neonatal period"],"prefix":"10.1002","volume":"188","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9904-3769","authenticated-orcid":false,"given":"Abigail","family":"Kacpura","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth)  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8544-7175","authenticated-orcid":false,"given":"Marta","family":"Frigeni","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth)  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5581-8198","authenticated-orcid":false,"given":"Kathryn","family":"Gunther","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth)  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9205-7490","authenticated-orcid":false,"given":"Laura","family":"Farach","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics McGovern Medical School at The University of Texas Health Science Center at Houston (UTHealth)  Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,2,14]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-3476(98)70496-2"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2015.10.041"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-009-1257-y"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-014-9687-6"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajem.2019.04.012"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12087"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10545-016-9991-4"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21001"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1683"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2013.05.007"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1023\/a:1005353530303"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/jmd2.12055"},{"key":"e_1_2_8_14_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Sloan J. 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