Juvenile GM2 gangliosidosis variant B1: clinical and biochemical study in seven patients.
作者信息
Maia M, Alves D, Ribeiro G, Pinto R, Sa Miranda M C
机构信息
Hospital de crianças Maria Pia, Porto, Portugal.
出版信息
Neuropediatrics. 1990 Feb;21(1):18-23. doi: 10.1055/s-2008-1071451.
PMID:2138256
Abstract
We describe seven patients from five different families with GM2 gangliosidosis, variant B1. To our knowledge these are the first juvenile cases reported in the literature.
摘要
Zotero 插件