{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T17:29:25Z","timestamp":1780507765955,"version":"3.54.1"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"6","license":[{"start":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T00:00:00Z","timestamp":1625011200000},"content-version":"vor","delay-in-days":32,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81870042"],"award-info":[{"award-number":["81870042"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81900050"],"award-info":[{"award-number":["81900050"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100007219","name":"Natural Science Foundation of Shanghai","doi-asserted-by":"publisher","award":["18ZR1431500"],"award-info":[{"award-number":["18ZR1431500"]}],"id":[{"id":"10.13039\/100007219","id-type":"DOI","asserted-by":"publisher"}]},{"name":"National Science and Technology Information System of the China","award":["2018YFC1313603"],"award-info":[{"award-number":["2018YFC1313603"]}]},{"name":"Program of Shanghai Municipal Commission of Health","award":["20204Y0384"],"award-info":[{"award-number":["20204Y0384"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,5,29]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Cobalamin C (cbl-C) defect is an inherited autosomal recessive disorder that commonly affects the central nervous system of infants. Severe pulmonary hypertension (PH) and diffuse lung lesions are unusual clinical manifestations, especially among adults.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>A 25-year-old man with hypoxaemia, diffuse lung lesions, and PH, suddenly developed nausea, vomiting, headache, and worsening of dyspnoea. Metabolic screening showed elevated serum levels of methylmalonic acid and homocysteine, and genetic testing revealed MMACHC gene mutations. He was eventually diagnosed with severe PH secondary to cbl-C defect and was successfully managed with vitamin B12, betaine, L-carnitine, folate, as well as ambrisentan and sildenafil.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>cbl-C is a rare cause of PH and can present with severe PH and diffuse lung lesions in adults. Given that the condition is treatable, a careful metabolic screening should be considered when a diagnosis of PH is made.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytab251","type":"journal-article","created":{"date-parts":[[2021,6,30]],"date-time":"2021-06-30T08:36:38Z","timestamp":1625042198000},"source":"Crossref","is-referenced-by-count":2,"title":["Adult-onset hypoxaemia, diffuse lung lesions, and pulmonary hypertension in cobalamin C defect: a case report"],"prefix":"10.1093","volume":"5","author":[{"given":"Qin-Hua","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, 507, Zhengmin Road, Shanghai 200433, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8962-4693","authenticated-orcid":false,"given":"Wen-Hui","family":"Wu","sequence":"additional","affiliation":[{"name":"Department of Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, 507, Zhengmin Road, Shanghai 200433, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6420-0093","authenticated-orcid":false,"given":"Li-Jun","family":"Fu","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, 1678, Dongfang Road, Shanghai 200127, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7270-1397","authenticated-orcid":false,"given":"Lan","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pulmonary Circulation, Shanghai Pulmonary Hospital, Tongji University School of Medicine, 507, Zhengmin Road, Shanghai 200433, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2021,6,30]]},"reference":[{"key":"2021070817013199600_ytab251-B1","doi-asserted-by":"crossref","first-page":"1801904","DOI":"10.1183\/13993003.01904-2018","article-title":"Diagnosis of pulmonary hypertension","volume":"53","author":"Frost","year":"2019","journal-title":"Eur Respir J"},{"key":"2021070817013199600_ytab251-B2","doi-asserted-by":"crossref","first-page":"357","DOI":"10.1148\/rg.2018170046","article-title":"Approach to pulmonary hypertension: from CT to clinical diagnosis","volume":"38","author":"Aluja Jaramillo","year":"2018","journal-title":"Radiographics"},{"key":"2021070817013199600_ytab251-B3","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/s10545-010-9161-z","article-title":"Cobalamin C defect: natural history, pathophysiology, and treatment","volume":"34","author":"Martinelli","year":"2011","journal-title":"J Inherit Metab 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