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Long-term outcome of CblC deficiency complicated with pulmonary hypertension

Abstract Objective Pulmonary Hypertension (PH) in patients with cblC deficiency is one of the rare but lethal complications. This study aimed to described its characteristics and long-term outcome. Methods A total of 26 patients with cblC deficiency complicated by PH were enrolled. Clinical and labo...

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Principais autores: Si Ding, Yuxin Deng, Lili Hao, Wenjuan Qiu, Shengnan Wu, Yongxing Chen, Ting Chen, Xia Zhan, Lianshu Han, Xianting Jiao
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2025-06-01
Serier:Orphanet Journal of Rare Diseases
Fag:
CblC deficiency
Methylmalonic acidemia
MMACHC gene
Pulmonary hypertension
Online adgang:https://doi.org/10.1186/s13023-025-03839-5
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