Literature DB >> 25063380

[Genetic aspects of mucopolysaccharidoses].

D Lacombe1, D P Germain2.   

Abstract

Mucopolysaccharidoses (MPS) are inherited metabolic diseases caused by mutations in the genes coding for one of the eleven enzymes involved in lysosomal catabolism of different glycosaminoglycans (or mucopolysaccharides). The different enzyme deficiencies result in a total of seven distinct mucopolysaccharidoses (I to IV, VI, VII and IX). This review considers the genetic and molecular aspects of the seven types of MPS.
Copyright © 2014 Elsevier Masson SAS. All rights reserved.

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Year:  2014        PMID: 25063380     DOI: 10.1016/S0929-693X(14)72255-9

Source DB:  PubMed          Journal:  Arch Pediatr        ISSN: 0929-693X            Impact factor:   1.180


  2 in total

1.  Epidemiology of mucopolysaccharidoses.

Authors:  Shaukat A Khan; Hira Peracha; Diana Ballhausen; Alfred Wiesbauer; Marianne Rohrbach; Matthias Gautschi; Robert W Mason; Roberto Giugliani; Yasuyuki Suzuki; Kenji E Orii; Tadao Orii; Shunji Tomatsu
Journal:  Mol Genet Metab       Date:  2017-05-26       Impact factor: 4.797

2.  Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.

Authors:  Yong-An Zhou; Ping Li; Yanping Zhang; Qiuhong Xiong; Chao Li; Zhonghua Zhao; Yuxian Wang; Han Xiao
Journal:  Mol Genet Genomic Med       Date:  2019-11-23       Impact factor: 2.183

  2 in total

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