Article
Mucolipidosis in a Chinese family with compound heterozygous mutations at the GNPTAB gene.
Clinica chimica acta; international journal of clinical chemistry - 15 Jul 2011
Zhan Tailan, Cui Xiukun, Xing Xuenong, Ren An, Gan Guanqi, Liu Ying, Zhang Jing, Tang Zhaohui, Liu Mugen
Abstract excerpt
BACKGROUND: Mucopolysaccharidoses (MPS) are caused by the deficiency in the metabolism of one or more types of mucopolysaccharides or glycosaminoglycans (GAGs). Mucolipidoses (ML) are a group of genetic disorders in which both glycosaminoglycans (GAGs) and sphingolipids build up in the body. Both of MPS and ML belong to lysosomal storage diseases and show similar clinical manifestations. Distinction of these two...
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