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Article

Cobalamin C deficiency presenting with diffuse alveolar hemorrhage and pulmonary microangiopathy.

Pediatric pulmonology - 1 Jun 2020

Liu Jinrong, Tang Xiaolei, Zhou Chunju, Xu Hui, Yang Haiming, He Ruxuan, Li Huimin, Zhao Shunying

Abstract excerpt

OBJECTIVE: Combined methylmalonic acidemia and homocysteinemia is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism, which consists of five subtypes including cblC, cblD, cblF, cblJ, and cblX deficiencies. The purpose of this study is to summarize new clinical features mainly diffuse alveolar hemorrhage (DAH) in cblC deficiency. METHODS: We made a retrospective analysis of four...

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PMID: 32293809
DOI: 10.1002/ppul.24781

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