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Oral immunotherapy tolerizes mice to enzyme replacement therapy for Morquio A syndrome.
- Published in:
- 2020
- By:
- Publication type:
- journal article
A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease.
- Published in:
- International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 4, p. 61, doi. 10.3390/ijns8040061
- By:
- Publication type:
- Article
Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.
- Published in:
- Human Genetics, 2003, v. 113, n. 2, p. 162, doi. 10.1007/s00439-003-0959-8
- By:
- Publication type:
- Article
Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Gene deletions in Japanese patients with Duchenne and Becker muscular dystrophies: deletion study and carrier detection.
- Published in:
- Clinical Genetics, 1991, v. 39, n. 6, p. 419, doi. 10.1111/j.1399-0004.1991.tb03052.x
- By:
- Publication type:
- Article
Cochlear implantation in a patient with mucopolysaccharidosis IVA.
- Published in:
- SAGE Open Medical Case Reports, 2019, v. 7, p. N.PAG, doi. 10.1177/2050313X19873791
- By:
- Publication type:
- Article
Cochlear implantation in a patient with mucopolysaccharidosis IVA.
- Published in:
- SAGE Open Medical Case Reports, 2019, v. 7, p. N.PAG, doi. 10.1177/2050313X19873791
- By:
- Publication type:
- Article
Enhancement of Drug Delivery: Enzyme-replacement Therapy for Murine Morquio A Syndrome.
- Published in:
- Molecular Therapy, 2010, v. 18, n. 6, p. 1094, doi. 10.1038/mt.2010.32
- By:
- Publication type:
- Article
Brother/sister siblings affected with Hunter disease: evidence for skewed X chromosome inactivation.
- Published in:
- Clinical Genetics, 1998, v. 53, n. 2, p. 96, doi. 10.1111/j.1399-0004.1998.tb02654.x
- By:
- Publication type:
- Article
Carrier identification of X-linked adrenoleukodystrophy by measurement of very long chain fatty acids and lignoceric acid oxidation.
- Published in:
- Clinical Genetics, 1996, v. 50, n. 5, p. 348, doi. 10.1111/j.1399-0004.1996.tb02386.x
- By:
- Publication type:
- Article
Paraplegia after epidural-general anesthesia in a Morquio patient with moderate thoracic spinal stenosis.
- Published in:
- 2015
- By:
- Publication type:
- Report
Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Shutdown of ER-associated degradation pathway rescues functions of mutant iduronate 2-sulfatase linked to mucopolysaccharidosis type II.
- Published in:
- Cell Death & Disease, 2018, v. 9, n. 8, p. 1, doi. 10.1038/s41419-018-0871-8
- By:
- Publication type:
- Article
Differences in methylation patterns in the methylation boundary region of IDS gene in hunter syndrome patients: implications for CpG hot spot mutations.
- Published in:
- European Journal of Human Genetics, 2006, v. 14, n. 7, p. 838, doi. 10.1038/sj.ejhg.5201615
- By:
- Publication type:
- Article
Salacia reticulata has therapeutic effects on obesity.
- Published in:
- Journal of Natural Medicines, 2014, v. 68, n. 4, p. 668, doi. 10.1007/s11418-014-0845-9
- By:
- Publication type:
- Article
Sacral dimple: incidental findings from newborn evaluation (Discussion and Diagnosis).
- Published in:
- Acta Paediatrica, 2009, v. 98, n. 5, p. 910, doi. 10.1111/j.1651-2227.2009.01135.x
- By:
- Publication type:
- Article
Sacral dimple: incidental findings from newborn evaluation. Mucopolysaccharidosis IVA disease.
- Published in:
- 2009
- By:
- Publication type:
- journal article
Sacral dimple: incidental findings from newborn evaluation (Case Presentation).
- Published in:
- Acta Paediatrica, 2009, v. 98, n. 5, p. 768, doi. 10.1111/j.1651-2227.2009.01134.x
- By:
- Publication type:
- Article
Activity of daily living in mucopolysaccharidosis IVA patients: Evaluation of therapeutic efficacy.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1806
- By:
- Publication type:
- Article
Therapeutic Options for Mucopolysaccharidoses: Current and Emerging Treatments.
- Published in:
- Drugs, 2019, v. 79, n. 10, p. 1103, doi. 10.1007/s40265-019-01147-4
- By:
- Publication type:
- Article
Genetic Analysis of IgE and the IGHE, IGHEP1 and IGHEP2 Genes in Atopic Families.
- Published in:
- International Archives of Allergy & Immunology, 1995, v. 106, n. 1, p. 62, doi. 10.1159/000236891
- By:
- Publication type:
- Article
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 9, p. 490, doi. 10.1007/s10038-004-0178-8
- By:
- Publication type:
- Article
Analytical method for determination of disaccharides derived from keratan sulfates in human serum and plasma by high-performance liquid chromatography/turbo-ionspray ionization tandem mass spectrometry.
- Published in:
- Biomedical Chromatography, 2007, v. 21, n. 4, p. 356, doi. 10.1002/bmc.760
- By:
- Publication type:
- Article
Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 2, p. 396, doi. 10.3390/jcm9020396
- By:
- Publication type:
- Article
Enzyme replacement therapy in a murine model of Morquio A syndrome.
- Published in:
- Human Molecular Genetics, 2008, v. 17, n. 6, p. 815
- By:
- Publication type:
- Article
Comparison of Liquid Chromatography-Tandem Mass Spectrometry and Sandwich ELISA for Determination of Keratan Sulfate in Plasma and Urine.
- Published in:
- Biomarker Insights, 2011, n. 6, p. 69, doi. 10.4137/BMI.S7451
- By:
- Publication type:
- Article
Adeno-associated virus gene transfer in Morquio A disease – effect of promoters and sulfatase-modifying factor 1.
- Published in:
- FEBS Journal, 2010, v. 277, n. 17, p. 3608, doi. 10.1111/j.1742-4658.2010.07769.x
- By:
- Publication type:
- Article
Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography.
- Published in:
- Pediatric Radiology, 2021, v. 51, n. 7, p. 1202, doi. 10.1007/s00247-020-04946-0
- By:
- Publication type:
- Article
Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha‐L‐iduronidase determinations on dried blood spots to predict symptoms.
- Published in:
- Journal of Inherited Metabolic Disease Reports, 2020, v. 52, n. 1, p. 35, doi. 10.1002/jmd2.12093
- By:
- Publication type:
- Article
Glycosaminoglycans as Biomarkers for Mucopolysaccharidoses and Other Disorders.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 9, p. 1563, doi. 10.3390/diagnostics11091563
- By:
- Publication type:
- Article
Diagnosis of Mucopolysaccharidoses and Mucolipidosis by Assaying Multiplex Enzymes and Glycosaminoglycans.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 8, p. 1347, doi. 10.3390/diagnostics11081347
- By:
- Publication type:
- Article
Automated Assessment of Thoracic-Abdominal Asynchrony in Patients with Morquio Syndrome.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 5, p. 880, doi. 10.3390/diagnostics11050880
- By:
- Publication type:
- Article
Epidemiology of Mucopolysaccharidoses Update.
- Published in:
- Diagnostics (2075-4418), 2021, v. 11, n. 2, p. 273, doi. 10.3390/diagnostics11020273
- By:
- Publication type:
- Article
Hearing Loss in Mucopolysaccharidoses: Current Knowledge and Future Directions.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 8, p. 554, doi. 10.3390/diagnostics10080554
- By:
- Publication type:
- Article
Pathophysiology of Hip Disorders in Patients with Mucopolysaccharidosis IVA.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 5, p. 264, doi. 10.3390/diagnostics10050264
- By:
- Publication type:
- Article
Assessment of Activity of Daily Life in Mucopolysaccharidosis Type II Patients with Hematopoietic Stem Cell Transplantation.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 1, p. 46, doi. 10.3390/diagnostics10010046
- By:
- Publication type:
- Article
Long-Term Follow-up Posthematopoietic Stem Cell Transplantation in a Japanese Patient with Type-VII Mucopolysaccharidosis.
- Published in:
- Diagnostics (2075-4418), 2020, v. 10, n. 2, p. 105, doi. 10.3390/diagnostics10020105
- By:
- Publication type:
- Article
Safety Study of Sodium Pentosan Polysulfate for Adult Patients with Mucopolysaccharidosis Type II.
- Published in:
- Diagnostics (2075-4418), 2019, v. 9, n. 4, p. 226, doi. 10.3390/diagnostics9040226
- By:
- Publication type:
- Article
Heterologous HSPC Transplantation Rescues Neuroinflammation and Ameliorates Peripheral Manifestations in the Mouse Model of Lysosomal Transmembrane Enzyme Deficiency, MPS IIIC.
- Published in:
- Cells (2073-4409), 2024, v. 13, n. 10, p. 877, doi. 10.3390/cells13100877
- By:
- Publication type:
- Article
Development of MPS IVA mouse (Galnstm(hC79S·mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 22, p. 3321, doi. 10.1093/hmg/ddi364
- By:
- Publication type:
- Article
Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns−/−) produced by targeted disruption of the gene defective in Morquio A disease.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 24, p. 3349, doi. 10.1093/hmg/ddg366
- By:
- Publication type:
- Article
Production of MPS VII mouse (Gustm(hE540A·mE536A)Sly) doubly tolerant to human and mouse β-glucuronidase.
- Published in:
- Human Molecular Genetics, 2003, v. 12, n. 9, p. 961, doi. 10.1093/hmg/ddg119
- By:
- Publication type:
- Article
Mucopolysaccharidosis type IVA: identification of six novel mutations among non-Japanese patients.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 4, p. 741
- By:
- Publication type:
- Article
Four novel mutations in Mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the β-glucuronidase gene that creates a novel 5'-splice site.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 4, p. 651
- By:
- Publication type:
- Article
Mucopolysaccharidosis IVA: screening and identification of mutations of the N-acetylgalactosamine-6-sulfate sulfatase gene.
- Published in:
- Human Molecular Genetics, 1995, v. 4, n. 3, p. 341
- By:
- Publication type:
- Article
A novel splice site mutation intron 1 of the GALNS gene in a Japanese patient with mucopolysaccharidosis IVA.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 8, p. 1427
- By:
- Publication type:
- Article
New Gaucher disease mutations in exon 10: a novel L444R mutation produces a new Ncil site the same as L444P.
- Published in:
- Human Molecular Genetics, 1994, v. 3, n. 7, p. 1183
- By:
- Publication type:
- Article
Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry.
- Published in:
- Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 151, doi. 10.1007/s10545-016-9981-6
- By:
- Publication type:
- Article
Neonatal cellular and gene therapies for mucopolysaccharidoses: the earlier the better?
- Published in:
- Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 189, doi. 10.1007/s10545-015-9900-2
- By:
- Publication type:
- Article
Enzyme replacement therapy on hypophosphatasia mouse model.
- Published in:
- Journal of Inherited Metabolic Disease, 2014, v. 37, n. 2, p. 309, doi. 10.1007/s10545-013-9646-7
- By:
- Publication type:
- Article