Quantitative analysis of the natural history of prolidase deficiency: description of 17 families and systematic review of published cases
脯氨酸酶缺乏症自然史的定量分析:17个家族的描述及已发表病例的系统性回顾
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1038/s41436-021-01200-2
Rossignol, Francis; Duarte Moreno, Marvid S; Benoist, Jean-François; Boehm, Manfred; Bourrat, Emmanuelle; Cano, Aline; Chabrol, Brigitte; Cosson, Claudine; Díaz, José Luís Dapena; D'Harlingue, Arthur; Dimmock, David; Freeman, Alexandra F; García, María Tallón; Garganta, Cheryl; Goerge, Tobias; Halbach, Sara S; de Laffolie, Jan; Lam, Christina T; Martin, Ludovic; Martins, Esmeralda; Meinhardt, Andrea; Melki, Isabelle; Ombrello, Amanda K; Pérez, Noémie; Quelhas, Dulce; Scott, Anna; Slavotinek, Anne M; Soares, Ana Rita; Stein, Sarah L; Süßmuth, Kira; Thies, Jenny; Ferreira, Carlos R; Schiff, Manuel