Adelaide Research & Scholarship
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https://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 |
| DOI: | 10.1016/j.ymgme.2005.02.008 |
| Published version: | http://dx.doi.org/10.1016/j.ymgme.2005.02.008 |
| Appears in Collections: | Aurora harvest 6 Paediatrics publications |
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