Otorhinolaryngological manifestations of the mucopolysaccharidoses

M. A. Simmons; I. A. Bruce; S. Penney; E. Wraith; M. P. Rothera

doi:10.1016/j.ijporl.2005.01.017

Otorhinolaryngological manifestations of the mucopolysaccharidoses

M. A. Simmons, I. A. Bruce, S. Penney, E. Wraith, M. P. Rothera

Research output: Contribution to journal › Article › peer-review

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. © 2005 Published by Elsevier Ireland Ltd.

Original language	English
Pages (from-to)	589-595
Number of pages	6
Journal	International journal of pediatric otorhinolaryngology
Volume	69
Issue number	5
DOIs	https://doi.org/10.1016/j.ijporl.2005.01.017
Publication status	Published - May 2005

Keywords

Mucopolysaccharidoses
Otolaryngology

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10.1016/j.ijporl.2005.01.017

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title = "Otorhinolaryngological manifestations of the mucopolysaccharidoses",

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. {\textcopyright} 2005 Published by Elsevier Ireland Ltd.",

keywords = "Mucopolysaccharidoses, Otolaryngology",

author = "Simmons, {M. A.} and Bruce, {I. A.} and S. Penney and E. Wraith and Rothera, {M. P.}",

year = "2005",

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T1 - Otorhinolaryngological manifestations of the mucopolysaccharidoses

AU - Simmons, M. A.

AU - Bruce, I. A.

AU - Penney, S.

AU - Wraith, E.

AU - Rothera, M. P.

PY - 2005/5

Y1 - 2005/5

N2 - 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. © 2005 Published by Elsevier Ireland Ltd.

AB - 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. © 2005 Published by Elsevier Ireland Ltd.

KW - Mucopolysaccharidoses

KW - Otolaryngology

U2 - 10.1016/j.ijporl.2005.01.017

DO - 10.1016/j.ijporl.2005.01.017

M3 - Article

C2 - 15850680

SN - 0165-5876

VL - 69

SP - 589

EP - 595

JO - International journal of pediatric otorhinolaryngology

JF - International journal of pediatric otorhinolaryngology

IS - 5

ER -

Otorhinolaryngological manifestations of the mucopolysaccharidoses

Abstract

Keywords

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