{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T08:27:42Z","timestamp":1740126462825,"version":"3.37.3"},"reference-count":6,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"},{"start":{"date-parts":[[2021,12,27]],"date-time":"2021-12-27T00:00:00Z","timestamp":1640563200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T00:00:00Z","timestamp":1648771200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100002322","name":"Coordena\u00e7\u00e3o de Aperfei\u00e7oamento de Pessoal de N\u00edvel Superior","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100002322","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100005668","name":"Funda\u00e7\u00e3o de Apoio \u00e0 Pesquisa do Distrito Federal","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100005668","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003593","name":"Conselho Nacional de Desenvolvimento Cient\u00edfico e Tecnol\u00f3gico","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100003593","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100004809","name":"Financiadora de Estudos e Projetos","doi-asserted-by":"publisher","id":[{"id":"10.13039\/501100004809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2022,4,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Cobalamin (vitamin B12) is important in gastrulation, nervous system development and haemoglobin formation. Mutations of the ABCD4 or LMBRD1 genes can lead to cobalamin-related disorders. We report a patient with disseminated skin hyperpigmentation caused by a homozygous LMBRD1 variant. Genetic disorders of cobalamin metabolism caused by variants in the ABCD4 or LMBRD1 genes should be considered in patients presenting with cutaneous hyperpigmentation.<\/jats:p>\n               <jats:p>Click https:\/\/www.wileyhealthlearning.com\/#\/online-courses\/a6ef1275-8325-4834-89d2-aa18fa31e63f for the corresponding questions to this CME article.<\/jats:p>","DOI":"10.1111\/ced.15046","type":"journal-article","created":{"date-parts":[[2021,12,27]],"date-time":"2021-12-27T10:43:21Z","timestamp":1640601801000},"page":"812-815","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant"],"prefix":"10.1093","volume":"47","author":[{"given":"S. V.","family":"Braz","sequence":"first","affiliation":[{"name":"Postgraduate Programme in Health Sciences University of Bras\u00edlia Bras\u00edlia Brazil"},{"name":"Hospital da Crian\u00e7a de Bras\u00edlia-Jos\u00e9 de Alencar Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. A.","family":"Benicio","sequence":"additional","affiliation":[{"name":"Postgraduate Programme in Medical Sciences University of Bras\u00edlia Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G. S. S. S.","family":"Tonelli","sequence":"additional","affiliation":[{"name":"Departments of Cellular Biology Institute of Biological Sciences University of Bras\u00edlia Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. N.","family":"B\u00e1o","sequence":"additional","affiliation":[{"name":"Departments of Cellular Biology Institute of Biological Sciences University of Bras\u00edlia Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. N.","family":"Moretti","sequence":"additional","affiliation":[{"name":"Postgraduate Programme in Medical Sciences University of Bras\u00edlia Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Pic-Taylor","sequence":"additional","affiliation":[{"name":"Postgraduate Programme in Health Sciences University of Bras\u00edlia Bras\u00edlia Brazil"},{"name":"Postgraduate Programme in Medical Sciences University of Bras\u00edlia Bras\u00edlia Brazil"},{"name":"Department of Genetics and Morphology Institute of Biological Sciences University of Bras\u00edlia Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S. F.","family":"Oliveira","sequence":"additional","affiliation":[{"name":"Postgraduate Programme in Health Sciences University of Bras\u00edlia Bras\u00edlia Brazil"},{"name":"Hospital da Crian\u00e7a de Bras\u00edlia-Jos\u00e9 de Alencar Bras\u00edlia Brazil"},{"name":"Department of Genetics and Morphology Institute of Biological Sciences University of Bras\u00edlia Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. C.","family":"Acevedo","sequence":"additional","affiliation":[{"name":"Postgraduate Programme in Health Sciences University of Bras\u00edlia Bras\u00edlia Brazil"},{"name":"Faculty of Health Sciences University of Bras\u00edlia Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"I. M. C.","family":"Costa","sequence":"additional","affiliation":[{"name":"Postgraduate Programme in Medical Sciences University of Bras\u00edlia Bras\u00edlia Brazil"},{"name":"Faculty of Medicine University of Bras\u00edlia Bras\u00edlia Brazil"},{"name":"Brasilia University Hospital Universidade de Bras\u00edlia Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6161-0510","authenticated-orcid":false,"given":"J. F.","family":"Mazzeu","sequence":"additional","affiliation":[{"name":"Postgraduate Programme in Health Sciences University of Bras\u00edlia Bras\u00edlia Brazil"},{"name":"Postgraduate Programme in Medical Sciences University of Bras\u00edlia Bras\u00edlia Brazil"},{"name":"Faculty of Medicine University of Bras\u00edlia Bras\u00edlia Brazil"},{"name":"Brasilia University Hospital Universidade de Bras\u00edlia Bras\u00edlia Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2022,4,1]]},"reference":[{"key":"2023012704193414000_ced15046-bib-0001","doi-asserted-by":"crossref","first-page":"1523","DOI":"10.1111\/jcmm.12844","article-title":"Lmbrd1 expression is essential for the initiation of gastrulation","volume":"20","author":"Buers","year":"2016","journal-title":"J Cell Mol Med"},{"author":"Sloan","key":"2023012704193414000_ced15046-bib-0002"},{"key":"2023012704193414000_ced15046-bib-0003","doi-asserted-by":"crossref","first-page":"686","DOI":"10.1002\/jimd.12012","article-title":"The clinical presentation of cobalamin-related disorders: from acquired deficiencies to inborn errors of absorption and intracellular pathways","volume":"42","author":"Huemer","year":"2019","journal-title":"J Inherit Metab Dis"},{"key":"2023012704193414000_ced15046-bib-0004","doi-asserted-by":"crossref","first-page":"882","DOI":"10.1016\/j.jdcr.2020.07.011","article-title":"Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenita","volume":"6","author":"Altawil","year":"2020","journal-title":"JAAD Case Rep"},{"key":"2023012704193414000_ced15046-bib-0005","doi-asserted-by":"crossref","first-page":"282","DOI":"10.1111\/j.1346-8138.2001.tb00134.x","article-title":"Generalized hyperpigmentation of the skin due to vitamin B12 deficiency","volume":"28","author":"Mori","year":"2001","journal-title":"J Dermatol"},{"key":"2023012704193414000_ced15046-bib-0006","doi-asserted-by":"crossref","first-page":"30183","DOI":"10.1038\/srep30183","article-title":"Translocation of the ABC transporter ABCD4 from the endoplasmic reticulum to lysosomes requires the escort protein LMBD1","volume":"6","author":"Kawaguchi","year":"2016","journal-title":"Sci Rep"}],"container-title":["Clinical and Experimental Dermatology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/ced.15046","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1111\/ced.15046","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/ced\/article-pdf\/47\/4\/812\/46941922\/ced0812.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/ced\/article-pdf\/47\/4\/812\/46941922\/ced0812.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,27]],"date-time":"2023-01-27T04:42:10Z","timestamp":1674794530000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ced\/article\/47\/4\/812\/6693072"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,4,1]]},"references-count":6,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2022,4,1]]},"published-print":{"date-parts":[[2022,4,1]]}},"URL":"https:\/\/doi.org\/10.1111\/ced.15046","relation":{},"ISSN":["1365-2230","0307-6938"],"issn-type":[{"type":"electronic","value":"1365-2230"},{"type":"print","value":"0307-6938"}],"subject":[],"published-other":{"date-parts":[[2022,4,1]]},"published":{"date-parts":[[2022,4,1]]},"assertion":[{"value":"2021-12-01","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2021-12-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}