Mucopolysacharidose type I: De ziekten van Hurler en van Scheie

Q. G.A. Teunissen; F. J. Van Spronsen; G. Visser; M. M.M.G. Brands; A. T. Van Der Ploeg; F. A. Wijburg

doi:10.1007/s12456-010-0017-0

Mucopolysacharidose type I: De ziekten van Hurler en van Scheie

Translated title of the contribution: Mucopolysaccharidosis type I: Hurler syndrome and Scheie syndrome

Q. G.A. Teunissen, F. J. Van Spronsen, G. Visser, M. M.M.G. Brands, A. T. Van Der Ploeg, F. A. Wijburg

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Abstract

Mucopolysaccharidosis type 1 (MPS I) is a rare autosomal recessive lysosomal storage disorder. The phenotypic spectrum of MPS I is remarkably broad, and varies from the severe Hurler phenotype to the attenuated Scheie phenotype. Early detection of MPS I is very important, as the success of treatment (hematopoietic stemcell transplantation in the Hurler phenotype and enzyme replacement therapy for the Scheie phenotype) largely depends on the early initiation of therapy. Characteristic features of MPS I are: (recurrent) inguinal and umblilical hernia, recurrent upper respiratory tract infections, thoracolumbar kyphosis, obstructive sleep apneas, restricted joint mobility and corneal clouding. This disorder will be illustrated by presenting two case histories.

Translated title of the contribution	Mucopolysaccharidosis type I: Hurler syndrome and Scheie syndrome
Original language	Dutch
Pages (from-to)	57-62
Number of pages	6
Journal	Tijdschrift voor Kindergeneeskunde
Volume	78
Issue number	2
DOIs	https://doi.org/10.1007/s12456-010-0017-0
Publication status	Published - 1 Jan 2010

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title = "Mucopolysacharidose type I: De ziekten van Hurler en van Scheie",

abstract = "Mucopolysaccharidosis type 1 (MPS I) is a rare autosomal recessive lysosomal storage disorder. The phenotypic spectrum of MPS I is remarkably broad, and varies from the severe Hurler phenotype to the attenuated Scheie phenotype. Early detection of MPS I is very important, as the success of treatment (hematopoietic stemcell transplantation in the Hurler phenotype and enzyme replacement therapy for the Scheie phenotype) largely depends on the early initiation of therapy. Characteristic features of MPS I are: (recurrent) inguinal and umblilical hernia, recurrent upper respiratory tract infections, thoracolumbar kyphosis, obstructive sleep apneas, restricted joint mobility and corneal clouding. This disorder will be illustrated by presenting two case histories.",

author = "Teunissen, \{Q. G.A.\} and \{Van Spronsen\}, \{F. J.\} and G. Visser and Brands, \{M. M.M.G.\} and \{Van Der Ploeg\}, \{A. T.\} and Wijburg, \{F. A.\}",

year = "2010",

month = jan,

day = "1",

doi = "10.1007/s12456-010-0017-0",

language = "Dutch",

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TY - JOUR

T1 - Mucopolysacharidose type I

T2 - De ziekten van Hurler en van Scheie

AU - Teunissen, Q. G.A.

AU - Van Spronsen, F. J.

AU - Visser, G.

AU - Brands, M. M.M.G.

AU - Van Der Ploeg, A. T.

AU - Wijburg, F. A.

PY - 2010/1/1

Y1 - 2010/1/1

N2 - Mucopolysaccharidosis type 1 (MPS I) is a rare autosomal recessive lysosomal storage disorder. The phenotypic spectrum of MPS I is remarkably broad, and varies from the severe Hurler phenotype to the attenuated Scheie phenotype. Early detection of MPS I is very important, as the success of treatment (hematopoietic stemcell transplantation in the Hurler phenotype and enzyme replacement therapy for the Scheie phenotype) largely depends on the early initiation of therapy. Characteristic features of MPS I are: (recurrent) inguinal and umblilical hernia, recurrent upper respiratory tract infections, thoracolumbar kyphosis, obstructive sleep apneas, restricted joint mobility and corneal clouding. This disorder will be illustrated by presenting two case histories.

AB - Mucopolysaccharidosis type 1 (MPS I) is a rare autosomal recessive lysosomal storage disorder. The phenotypic spectrum of MPS I is remarkably broad, and varies from the severe Hurler phenotype to the attenuated Scheie phenotype. Early detection of MPS I is very important, as the success of treatment (hematopoietic stemcell transplantation in the Hurler phenotype and enzyme replacement therapy for the Scheie phenotype) largely depends on the early initiation of therapy. Characteristic features of MPS I are: (recurrent) inguinal and umblilical hernia, recurrent upper respiratory tract infections, thoracolumbar kyphosis, obstructive sleep apneas, restricted joint mobility and corneal clouding. This disorder will be illustrated by presenting two case histories.

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DO - 10.1007/s12456-010-0017-0

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JF - Tijdschrift voor Kindergeneeskunde

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Mucopolysacharidose type I: De ziekten van Hurler en van Scheie

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