Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
溶血鞘磷脂和溶血鞘磷脂-509的定量分析用于酸性鞘磷脂酶缺乏症的筛查
期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-022-02560-x
Kubaski, Francyne; Burlina, Alberto; Pereira, Danilo; Silva, Camilo; Herbst, Zackary M; Trapp, Franciele B; Michelin-Tirelli, Kristiane; Lopes, Franciele F; Burin, Maira G; Brusius-Facchin, Ana Carolina; Netto, Alice B O; Poletto, Edina; Bernardes, Tamires M; Carvalho, Gerson S; Sorte, Ney B; Ferreira, Fernanda N; Perin, Nilza; Clivati, Marta R; de Santana, Marnie T S; Lobos, Sandra F G; Leão, Emilia K E A; Coutinho, Marcelo P; Pinos, Paola V; Santos, Maria L S F; Penatti, Debora A; Lourenço, Charles M; Polo, Giulia; Giugliani, Roberto
