Mencía Fernández C, Ramos Polo E, Chabás A, García Corujo J M, Alvarez Pérez R, López Sastre J
An Esp Pediatr. 1986 Apr;24(4):246-9.
Presentation of a case of Niemann-Pick disease type A diagnosed by clinic, enzymatic analysis of leucocytic cells and the liver and presence of foamy cells widely distributed throughout the body. This case presents peculiarity of being associated to an endocardial fibroelastosis which is very infrequent.
报告一例通过临床、白细胞及肝脏酶分析以及全身广泛分布的泡沫细胞确诊的A型尼曼-匹克病病例。该病例的特殊之处在于与非常罕见的心内膜弹力纤维增生症相关。
