Found: 15
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Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0129-1
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- Publication type:
- Article
Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years.
- Published in:
- 2014
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- Publication type:
- journal article
Mucopolysaccharidosis Type VI, an Updated Overview of the Disease.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 24, p. 13456, doi. 10.3390/ijms222413456
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- Article
Mucopolysaccharidosis Type II: One Hundred Years of Research, Diagnosis, and Treatment.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 4, p. 1258, doi. 10.3390/ijms21041258
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- Article
Brain RNA-Seq Profiling of the Mucopolysaccharidosis Type II MouseModel.
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- International Journal of Molecular Sciences, 2017, v. 18, n. 5, p. 1072, doi. 10.3390/ijms18051072
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- Article
QueryOR: a comprehensive web platform for genetic variant analysis and prioritization.
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- BMC Bioinformatics, 2017, v. 18, p. 1, doi. 10.1186/s12859-017-1654-4
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- Publication type:
- Article
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
- Published in:
- 2019
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- Publication type:
- journal article
Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans—A Diagnostic Prediction Model.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 3, p. 532, doi. 10.3390/biom13030532
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- Publication type:
- Article
Segregation analysis in a family at risk for the Maroteaux–Lamy syndrome conclusively reveals c.1151G>A (p.S384N) as to be a polymorphism.
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- European Journal of Human Genetics, 2009, v. 17, n. 9, p. 1160, doi. 10.1038/ejhg.2009.19
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- Publication type:
- Article
Circadian transcriptome analysis in human fibroblasts from Hunter syndrome and impact of iduronate-2-sulfatase treatment.
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- BMC Medical Genomics, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1755-8794-6-37
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- Article
Molecular basis of mucopolysaccharidosis IVA (Morquio A syndrome): A review and classification of GALNS gene variants and reporting of 68 novel variants.
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- Human Mutation, 2021, v. 42, n. 11, p. 1384, doi. 10.1002/humu.24270
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- Article
Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene.
- Published in:
- Human Mutation, 2018, v. 39, n. 12, p. 1788, doi. 10.1002/humu.23613
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- Publication type:
- Article
Glycosaminoglycan signatures in body fluids of mucopolysaccharidosis type II mouse model under long-term enzyme replacement therapy.
- Published in:
- Journal of Molecular Medicine, 2022, v. 100, n. 8, p. 1169, doi. 10.1007/s00109-022-02221-3
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- Publication type:
- Article
Gene therapy approaches for lysosomal storage disorders, a good model for the treatment of mendelian diseases.
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- Acta Paediatrica, 2012, v. 101, n. 7, p. 692, doi. 10.1111/j.1651-2227.2012.02674.x
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- Article
Targeting Neurological Aspects of Mucopolysaccharidosis Type II: Enzyme Replacement Therapy and Beyond.
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- BioDrugs, 2024, v. 38, n. 5, p. 639, doi. 10.1007/s40259-024-00675-0
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- Publication type:
- Article