| 单词 | Deficiency Disease,Multiple Sulphatase |
| 释义 | Deficiency Disease,Multiple Sulphatase《英文msh词典》Deficiency Disease,Multiple Sulphatase [入口词] Deficiency Disease,Multiple Sulphatase [主题词] Sphingolipidoses [英文释义] A group of inherited metabolic disorders characterized by an excessive intra-lysosomal deposition of glycosphingolipids and phosphosphingolipids in the CENTRAL NERVOUS SYSTEM and,to a variable degree,in visceral structures. Clinical features vary with the specific subtype of the disease,but common features include progressive deterioration in psychomotor and visual function. (From Arch Neurol 1998 Aug;55(8):1055-6; Menkes,Textbook of Child Neurology,5th ed,p89) |
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