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Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients

โœ Scribed by Ursula Matte; Gouri Yogalingam; Doug Brooks; Sandra Leistner; Ida Schwartz; Luciane Lima; Denise Y Norato; Jaime M Brum; Clare Beesley; Bryan Winchester; Roberto Giugliani; John J Hopwood

Book ID
117735460
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
169 KB
Volume
78
Category
Article
ISSN
1096-7192

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Communicated by Chrks R. Scriwer Mucopolysaccharidosis type I (MPS I) is an autosomal recessive genetic disorder caused by deficiency of the lysosomal glycosidase a-L-iduronidase. Patients with this disorder present with varied clinical phenotypes ranging from early severe onset of disease and deat