单词 | alpha-Mannosidase Deficiencies |
释义 | alpha-Mannosidase Deficiencies《英文msh词典》alpha-Mannosidase Deficiencies [入口词] alpha-Mannosidase Deficiencies [主题词] alpha-Mannosidosis [英文释义] An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation,facial coarsening,and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder. |
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