Found: 31
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Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years.
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- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0129-1
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- 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.
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- 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
Targeting Brain Disease in MPSII: Preclinical Evaluation of IDS-Loaded PLGA Nanoparticles.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 8, p. 2014, doi. 10.3390/ijms20082014
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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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- Article
A novel CRISPR/Cas9-based iduronate-2-sulfatase (IDS) knockout human neuronal cell line reveals earliest pathological changes.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-37138-5
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- Article
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
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- 2019
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- Publication type:
- journal article
Human amniotic fluid stem cells protect rat lungs exposed to moderate hyperoxia.
- Published in:
- Pediatric Pulmonology, 2013, v. 48, n. 11, p. 1070, doi. 10.1002/ppul.22791
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- Article
Chromosomal aberrations, sister chromatid exchanges, and urinary thioethers in nurses handling antineoplastic drugs.
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- American Journal of Industrial Medicine, 1990, v. 18, n. 6, p. 689, doi. 10.1002/ajim.4700180607
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- Article
Mucopolysaccharidoses Differential Diagnosis by Mass Spectrometry-Based Analysis of Urine Free Glycosaminoglycans—A Diagnostic Prediction Model.
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- Biomolecules (2218-273X), 2023, v. 13, n. 3, p. 532, doi. 10.3390/biom13030532
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- 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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- 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
Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study.
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- 2022
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- Publication type:
- journal article
Molecular markers for the follow-up of enzyme-replacement therapy in mucopolysaccharidosis type VI disease.
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- Biotechnology & Applied Biochemistry, 2008, v. 049, n. 3, p. 219
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- Article
Biochemical and molecular analysis in mucopolysaccharidoses: what a paediatrician must know.
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- Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0553-2
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- Article
Hunter syndrome in an 11‐year old girl on enzyme replacement therapy with idursulfase: brain magnetic resonance imaging features and evolution.
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- Journal of Inherited Metabolic Disease, 2010, v. 33, p. 67, doi. 10.1007/s10545-009-9023-8
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- Article
A column-switching HPLC-MS/MS method for mucopolysaccharidosis type I analysis in a multiplex assay for the simultaneous newborn screening of six lysosomal storage disorders.
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- Biomedical Chromatography, 2014, v. 28, n. 8, p. 1131, doi. 10.1002/bmc.3133
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- Article
FGF signaling deregulation is associated with early developmental skeletal defects in animal models for mucopolysaccharidosis type II (MPSII).
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- Human Molecular Genetics, 2018, v. 27, n. 13, p. 2262, doi. 10.1093/hmg/ddy131
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- Article
Glial degeneration with oxidative damage drives neuronal demise in MPSII disease.
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- Cell Death & Disease, 2016, v. 7, n. 8, p. e2331, doi. 10.1038/cddis.2016.231
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- Article
Targeted Polymeric Nanoparticles for Brain Delivery of High Molecular Weight Molecules in Lysosomal Storage Disorders.
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- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0156452
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- Article
Reduction of GAG storage in MPS II mouse model following implantation of encapsulated recombinant myoblasts.
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- Journal of Gene Medicine, 2005, v. 7, n. 11, p. 1482, doi. 10.1002/jgm.790
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- Article
Exploiting the Potential of Drosophila Models in Lysosomal Storage Disorders: Pathological Mechanisms and Drug Discovery.
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- Biomedicines, 2021, v. 9, n. 3, p. 268, doi. 10.3390/biomedicines9030268
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- Article
Drosophila D-idua Reduction Mimics Mucopolysaccharidosis Type I Disease-Related Phenotypes.
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- Cells (2073-4409), 2022, v. 11, n. 1, p. 129, doi. 10.3390/cells11010129
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- Article
Large-scale feasibility of gene transduction into human CD34<sup>+</sup> cell-derived dendritic cells by adenoviral/polycation complex.
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- British Journal of Haematology, 2000, v. 111, n. 1, p. 344, doi. 10.1046/j.1365-2141.2000.02258.x
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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.
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- 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.
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- Journal of Molecular Medicine, 2022, v. 100, n. 8, p. 1169, doi. 10.1007/s00109-022-02221-3
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- 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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- Article