Review
doi: 10.1016/j.ijporl.2005.01.017.
Otorhinolaryngological manifestations of the mucopolysaccharidoses
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- PMID: 15850680
- DOI: 10.1016/j.ijporl.2005.01.017
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Review
Otorhinolaryngological manifestations of the mucopolysaccharidoses
Int J Pediatr Otorhinolaryngol.
2005 May.
Abstract
The mucopolysaccharidoses (MPS) are a family of related inherited metabolic disorders where, due to specific lysosomal enzyme deficiencies, partially degraded glycosaminoglycans (GAGs) accumulate in the body's cells. Due to the ubiquitous nature of GAGs in the body this deposition can occur in many tissue types and may interfere with cellular function. Although these conditions are rare, there is a propensity for the disease process to cause problems with the function of the ears, noses and throats of affected patients. In this review, we present an overview of the clinical manifestations of MPS in general and highlight the problems specifically presenting in the field of otorhinolaryngology.
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