Eltermann T, Menendez-Castro C, Kienzle H-P, Wössner R, Thomas W
Kinderklinik, Universitätsklinik Würzburg, Germany.
Klin Padiatr. 2010 Sep;222(5):308-9. doi: 10.1055/s-0030-1248282. Epub 2010 Mar 18.
Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare autosomal recessive disease. In the described patient diagnostic relevant symptoms developed at 3 week age.
贝拉尔迪内利-塞普先天性脂肪代谢障碍（BSCL）是一种非常罕见的常染色体隐性疾病。在所描述的患者中，诊断相关症状在3周龄时出现。
Zotero 插件