Health Related Quality of Life, Disability, and Pain in Alpha Mannosidosis
Alpha-mannosidosis, a rare lysosomal storage disorder caused by deficiency of the lysosomal enzyme alpha-mannosidase, results in accumulation of mannose-rich glycoproteins in the tissues and sequelae leading to intellectual disability, ataxia, impaired hearing and speech, recurrent infections, skele...
Main Authors: | , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
SciELO
2018-09-01
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Series: | Journal of Inborn Errors of Metabolism and Screening |
Online Access: | https://doi.org/10.1177/2326409818796854 |