Cobalamin C deficiency: a rare but treatable genetic cause of pulmonary hypertension.
作者信息
Grynblat Julien, Coulet Florence, Montani David
机构信息
INSERM UMR_S 999 "Pulmonary Hypertension: Pathophysiology and Novel Therapies", Marie Lannelongue Hospital and Bicêtre Hospital, Le Plessis-Robinson, France.
Department of Respiratory and Intensive Care Medicine, AP-HP, Pulmonary Hypertension National Referral Center, Bicêtre Hospital, Le Kremlin-Bicêtre, France.
出版信息
Orphanet J Rare Dis. 2025 Jul 10;20(1):357. doi: 10.1186/s13023-025-03903-0.
Abstract
摘要
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