Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment
In mucopolysaccharidoses (MPS), glycosaminoglycans (GAG) accumulate in tissues. In MPS II, approximately two-thirds of patients are cognitively impaired. We investigated levels of GAG in cerebrospinal fluid (CSF) in different populations from four clinical studies (including NCT00920647 and NCT01449...
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| Format: | Article |
| Language: | English |
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Elsevier
2015-12-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426915300513 |
| _version_ | 1811326655479676928 |
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| author | Christian J. Hendriksz Joseph Muenzer Adeline Vanderver Jonathan M. Davis Barbara K. Burton Nancy J. Mendelsohn Nan Wang Luying Pan Arian Pano Ann J. Barbier |
| author_facet | Christian J. Hendriksz Joseph Muenzer Adeline Vanderver Jonathan M. Davis Barbara K. Burton Nancy J. Mendelsohn Nan Wang Luying Pan Arian Pano Ann J. Barbier |
| author_sort | Christian J. Hendriksz |
| collection | DOAJ |
| description | In mucopolysaccharidoses (MPS), glycosaminoglycans (GAG) accumulate in tissues. In MPS II, approximately two-thirds of patients are cognitively impaired. We investigated levels of GAG in cerebrospinal fluid (CSF) in different populations from four clinical studies (including NCT00920647 and NCT01449240). Data indicate that MPS II patients with cognitive impairment have elevated levels of CSF GAG, whereas those with the attenuated phenotype typically have levels falling between those of the cognitively affected patients and healthy controls. |
| first_indexed | 2024-04-13T14:53:36Z |
| format | Article |
| id | doaj.art-88b22d02839a4098a411f02b7d972091 |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-04-13T14:53:36Z |
| publishDate | 2015-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-88b22d02839a4098a411f02b7d9720912022-12-22T02:42:31ZengElsevierMolecular Genetics and Metabolism Reports2214-42692015-12-015C10310610.1016/j.ymgmr.2015.11.001Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairmentChristian J. Hendriksz0Joseph Muenzer1Adeline Vanderver2Jonathan M. Davis3Barbara K. Burton4Nancy J. Mendelsohn5Nan Wang6Luying Pan7Arian Pano8Ann J. Barbier9The Mark Holland Metabolic Unit, Salford Royal NHS Foundation Trust, Salford M6 8HD, United KingdomDepartment of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USACenter for Genetic Medicine Research, Children's Research Institute, Children's National Health System, Washington, DC, 20010, USADivision of Newborn Medicine, Floating Hospital for Children at Tufts Medical Center, Boston, MA 02111, USADivision of Genetics, Birth Defects and Metabolism, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USADepartment of Medical Genetics, Children's Hospitals and Clinics of Minnesota, Minneapolis, MN 55404, USAShire, 300 Shire Way, Lexington, MA 02421, USAShire, 300 Shire Way, Lexington, MA 02421, USAShire, 300 Shire Way, Lexington, MA 02421, USAShire, 300 Shire Way, Lexington, MA 02421, USAIn mucopolysaccharidoses (MPS), glycosaminoglycans (GAG) accumulate in tissues. In MPS II, approximately two-thirds of patients are cognitively impaired. We investigated levels of GAG in cerebrospinal fluid (CSF) in different populations from four clinical studies (including NCT00920647 and NCT01449240). Data indicate that MPS II patients with cognitive impairment have elevated levels of CSF GAG, whereas those with the attenuated phenotype typically have levels falling between those of the cognitively affected patients and healthy controls.http://www.sciencedirect.com/science/article/pii/S2214426915300513Mucopolysaccharidosis IILysosomal storage diseaseCerebrospinal fluidGlycosaminoglycansIdursulfaseCognitive impairmentInherited metabolic disease |
| spellingShingle | Christian J. Hendriksz Joseph Muenzer Adeline Vanderver Jonathan M. Davis Barbara K. Burton Nancy J. Mendelsohn Nan Wang Luying Pan Arian Pano Ann J. Barbier Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment Molecular Genetics and Metabolism Reports Mucopolysaccharidosis II Lysosomal storage disease Cerebrospinal fluid Glycosaminoglycans Idursulfase Cognitive impairment Inherited metabolic disease |
| title | Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment |
| title_full | Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment |
| title_fullStr | Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment |
| title_full_unstemmed | Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment |
| title_short | Levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults, surrogate-normal children, and Hunter syndrome patients with and without cognitive impairment |
| title_sort | levels of glycosaminoglycans in the cerebrospinal fluid of healthy young adults surrogate normal children and hunter syndrome patients with and without cognitive impairment |
| topic | Mucopolysaccharidosis II Lysosomal storage disease Cerebrospinal fluid Glycosaminoglycans Idursulfase Cognitive impairment Inherited metabolic disease |
| url | http://www.sciencedirect.com/science/article/pii/S2214426915300513 |
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