| 单词 | beta-Mannosidosis |
| 释义 | beta-Mannosidosis《英文msh词典》beta-Mannosidosis [主题词] beta-Mannosidosis [同义词] Mannosidosis,beta A,Lysosomal [入口词] beta-Mannosidase Deficiency [入口词] Deficiency,beta-Mannosidase [入口词] beta Mannosidase Deficiency [入口词] beta Mannosidosis [入口词] beta-Mannosidase Deficiencies [入口词] beta-Mannosidoses [英文释义] An inborn error of metabolism marked by a defect in the lysosomal isoform of BETA-MANNOSIDASE that results in lysosomal accumulation of mannose-rich intermediate metabolites containing 1,4-beta linkages. The human disease occurs through autosomal recessive inheritance and manifests itself with variety of symptoms that depend upon the type of gene mutation. |
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