Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/17358
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Type: Journal article
Title: An index case for the attenuated end of the mucopolysaccharidosis type VI clinical spectrum
Author: Brooks, D.
Gibson, G.
Karageorgos, L.
Hein, L.
Robertson, E.
Hopwood, J.
Citation: Molecular Genetics and Metabolism, 2005; 85(3):236-238
Publisher: Academic Press Inc Elsevier Science
Issue Date: 2005
ISSN: 1096-7192
1096-7206
Abstract: Mucopolysaccharidosis type VI (MPS VI, Maroteaux-Lamy syndrome, McKusick #253200) is a lysosomal storage disorder that is caused by a deficiency in the lysosomal exohydrolase N-acetylgalactosamine-4-sulphatase (4-sulphatase, EC 3.1.6.1). We report a patient with no obvious clinical signs of MPS VI that has 5% of normal 4-sulphatase catalytic capacity. This patient represents an index case for the attenuated end of the MPS VI clinical spectrum.
Keywords: Lysosomes; Humans; Mucopolysaccharidoses; Mucopolysaccharidosis VI; N-Acetylgalactosamine-4-Sulfatase; DNA Mutational Analysis; Mutation, Missense; Adult; Female
RMID: 0020050571
DOI: 10.1016/j.ymgme.2005.02.008
Appears in Collections:Paediatrics publications

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