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Profiles of Globotriaosylsphingosine Analogs and Globotriaosylceramide Isoforms Accumulated in Body Fluids from Various Phenotypic Fabry Patients.
- Published in:
- Internal Medicine, 2024, v. 63, n. 11, p. 1531, doi. 10.2169/internalmedicine.2493-23
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- Publication type:
- Article
In Vivo Delivery of Therapeutic Molecules by Transplantation of Genome-Edited Induced Pluripotent Stem Cells.
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- Cell Transplantation, 2023, v. 32, p. 1, doi. 10.1177/09636897231173734
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- Article
Screening of Fabry disease in patients with chronic kidney disease in Japan.
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- Nephrology Dialysis Transplantation, 2022, v. 37, n. 1, p. 115, doi. 10.1093/ndt/gfaa324
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- Article
Erratum to: Screening of Fabry disease in patients with chronic kidney disease in Japan.
- Published in:
- Nephrology Dialysis Transplantation, 2021, v. 36, n. 11, p. 2155, doi. 10.1093/ndt/gfab234
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- Article
Genetically Modified Cell Transplantation Through Macroencapsulated Spheroids with Scaffolds to Treat Fabry Disease.
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- Cell Transplantation, 2021, v. 30, p. 1, doi. 10.1177/09636897211060269
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- Publication type:
- Article
Effectiveness of immunosuppressive therapy for nephrotic syndrome in a patient with late-onset Fabry disease: a case report and literature review.
- Published in:
- 2019
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- Publication type:
- journal 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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- Article
Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy.
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- Clinical & Experimental Nephrology, 2018, v. 22, n. 4, p. 843, doi. 10.1007/s10157-017-1525-3
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- Publication type:
- Article
Abnormal differentiation of Sandhoff disease model mouse-derived multipotent stem cells toward a neural lineage.
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- PLoS ONE, 2017, v. 12, n. 6, p. 1, doi. 10.1371/journal.pone.0178978
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- Article
FcRγ-dependent immune activation initiates astrogliosis during the asymptomatic phase of Sandhoff disease model mice.
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- Scientific Reports, 2017, p. 40518, doi. 10.1038/srep40518
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- Article
Structural Basis of Mucopolysaccharidosis Type II and Construction of a Database of Mutant Iduronate 2-Sulfatases.
- Published in:
- PLoS ONE, 2016, v. 11, n. 10, p. 1, doi. 10.1371/journal.pone.0163964
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- Publication type:
- Article
Protease-resistant modified human β-hexosaminidase B ameliorates symptoms in GM2 gangliosidosis model.
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- Journal of Clinical Investigation, 2016, v. 126, n. 5, p. 1691, doi. 10.1172/JCI85300
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- Publication type:
- Article
Distributions of Globotriaosylceramide Isoforms, and Globotriaosylsphingosine and Its Analogues in an α-Galactosidase A Knockout Mouse, a Model of Fabry Disease.
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- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0144958
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- Publication type:
- Article
Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations.
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- Journal of Human Genetics, 2015, v. 60, n. 9, p. 539, doi. 10.1038/jhg.2015.61
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- Publication type:
- Article
Clinical and biochemical investigation of male patients exhibiting membranous cytoplasmic bodies in biopsied kidney tissues; a pitfall in diagnosis of Fabry disease.
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- Journal of Nephropathology, 2015, v. 4, n. 3, p. 91, doi. 10.12860/jnp.2015.17
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- Publication type:
- Article
Rapid Immunochromatographic Detection of Serum Anti-α-Galactosidase A Antibodies in Fabry Patients after Enzyme Replacement Therapy.
- Published in:
- PLoS ONE, 2015, v. 10, n. 6, p. 1, doi. 10.1371/journal.pone.0128351
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- Publication type:
- Article
Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease.
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- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0127048
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- Publication type:
- Article
A case of Fabry nephropathy with histological features of oligonephropathy.
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- European Journal of Pediatrics, 2014, v. 173, n. 8, p. 1111, doi. 10.1007/s00431-013-2118-0
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- Publication type:
- Article
Comparative Study of Structural Changes Caused by Different Substitutions at the Same Residue on α-Galactosidase A.
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- PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0084267
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- Publication type:
- Article
Development of a Highly Sensitive Immuno-PCR Assay for the Measurement of α-Galactosidase A Protein Levels in Serum and Plasma.
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- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0078588
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- Publication type:
- Article
Impaired Neural Differentiation of Induced Pluripotent Stem Cells Generated from a Mouse Model of Sandhoff Disease.
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- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0055856
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- Publication type:
- Article
High-throughput screening identified disease-causing mutants and functional variants of α-galactosidase A gene in Japanese male hemodialysis patients.
- Published in:
- Journal of Human Genetics, 2012, v. 57, n. 9, p. 575, doi. 10.1038/jhg.2012.68
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- Publication type:
- Article
Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI.
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- Journal of Human Genetics, 2012, v. 57, n. 4, p. 280, doi. 10.1038/jhg.2012.6
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- Publication type:
- Article
Efficient Uptake of Recombinant α-Galactosidase A Produced with a Gene-Manipulated Yeast by Fabry Mice Kidneys.
- Published in:
- Molecular Medicine, 2012, v. 18, n. 1, p. 76, doi. 10.2119/molmed.2011.00248
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- Publication type:
- Article
Lyso-GM2 Ganglioside: A Possible Biomarker of Tay-Sachs Disease and Sandhoff Disease.
- Published in:
- PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029074
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- Publication type:
- Article
Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 6, p. 440, doi. 10.1038/jhg.2011.36
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- Publication type:
- Article
Fabry-database.org: database of the clinical phenotypes, genotypes and mutant α-galactosidase A structures in Fabry disease.
- Published in:
- Journal of Human Genetics, 2011, v. 56, n. 6, p. 467, doi. 10.1038/jhg.2011.31
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- Publication type:
- Article
Therapeutic Potential of Intracerebroventricular Replacement of Modified Human β-Hexosaminidase B for GM2 Gangliosidosis.
- Published in:
- Molecular Therapy, 2011, v. 19, n. 6, p. 1017, doi. 10.1038/mt.2011.27
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- Publication type:
- Article
Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis.
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- Annals of Neurology, 2011, v. 69, n. 4, p. 691, doi. 10.1002/ana.22262
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- Publication type:
- Article
Introduction of an N-Glycan Sequon Into HEXA Enhances Human β-Hexosaminidase Cellular Uptake in a Model of Sandhoff Disease.
- Published in:
- Molecular Therapy, 2010, v. 18, n. 8, p. 1519, doi. 10.1038/mt.2010.113
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- Publication type:
- Article
Prediction of the clinical phenotype of Fabry disease based on protein sequential and structural information.
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- Journal of Human Genetics, 2010, v. 55, n. 3, p. 175, doi. 10.1038/jhg.2010.5
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- Publication type:
- Article
Production of human β-hexosaminidase A with highly phosphorylated N-glycans by the overexpression of the Ogataea minuta MNN4 gene.
- Published in:
- Glycobiology, 2009, v. 19, n. 9, p. 1002, doi. 10.1093/glycob/cwp080
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- Publication type:
- Article
Structural bases of GM1 gangliosidosis and Morquio B disease.
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- Journal of Human Genetics, 2009, v. 54, n. 9, p. 510, doi. 10.1038/jhg.2009.70
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- Publication type:
- Article
Structural modeling of mutant α-glucosidases resulting in a processing/transport defect in Pompe disease.
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- Journal of Human Genetics, 2009, v. 54, n. 6, p. 324, doi. 10.1038/jhg.2009.32
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- Publication type:
- Article
Structural characterization of mutant α-galactosidases causing Fabry disease.
- Published in:
- Journal of Human Genetics, 2008, v. 53, n. 9, p. 812, doi. 10.1007/s10038-008-0316-9
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- Publication type:
- Article
Structural study on mutant α- l-iduronidases: insight into mucopolysaccharidosis type I.
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- Journal of Human Genetics, 2008, v. 53, n. 5, p. 467, doi. 10.1007/s10038-008-0272-4
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- Publication type:
- Article
Establishment of immortalized Schwann cells from Fabry mice and their low uptake of recombinant α-galactosidase.
- Published in:
- Journal of Human Genetics, 2007, v. 52, n. 12, p. 1018, doi. 10.1007/s10038-007-0210-x
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- Publication type:
- Article
Structural and biochemical studies on Pompe disease and a “pseudodeficiency of acid α-glucosidase”.
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- Journal of Human Genetics, 2007, v. 52, n. 11, p. 898, doi. 10.1007/s10038-007-0191-9
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- Publication type:
- Article
Significant Decrease in Tropoelastin Gene Expression in Fibroblasts from a Japanese Costello Syndrome Patient with Impaired Elastogenesis and Enhanced Proliferation.
- Published in:
- Journal of Biochemistry, 2006, v. 140, n. 2, p. 193, doi. 10.1093/jb/mvj146
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- Publication type:
- Article
Elimination of abnormal sialylglycoproteins in fibroblasts with sialidosis and galactosialidosis by normal gene transfer and enzyme replacement.
- Published in:
- Glycobiology, 2006, v. 16, n. 4, p. 271, doi. 10.1093/glycob/cwj069
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- Publication type:
- Article
Corrective effect on Fabry mice of yeast recombinant human α-galactosidase with N-linked sugar chains suitable for lysosomal delivery.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 4, p. 341, doi. 10.1007/s10038-006-0369-6
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- Publication type:
- Article
Comparison of the effects of agalsidase alfa and agalsidase beta on cultured human Fabry fibroblasts and Fabry mice.
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- Journal of Human Genetics, 2006, v. 51, n. 3, p. 180, doi. 10.1007/s10038-005-0342-9
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- Publication type:
- Article
Promoter Dependence of Plasmid–Pluronics Targeted α Galactosidase A Expression in Skeletal Muscle of Fabry Mice
- Published in:
- Molecular Therapy, 2005, v. 12, n. 5, p. 985, doi. 10.1016/j.ymthe.2005.02.032
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- Publication type:
- Article
Establishment of immortalized Schwann cells from Sandhoff mice and corrective effect of recombinant human β-hexosaminidase A on the accumulated GM2 ganglioside.
- Published in:
- Journal of Human Genetics, 2005, v. 50, n. 9, p. 460, doi. 10.1007/s10038-005-0278-0
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- Publication type:
- Article
Fabry disease: correlation between structural changes in α-galactosidase, and clinical and biochemical phenotypes.
- Published in:
- Human Genetics, 2005, v. 117, n. 4, p. 317, doi. 10.1007/s00439-005-1300-5
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- Publication type:
- Article
Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder.
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 12, p. 656, doi. 10.1007/s10038-004-0203-y
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- Publication type:
- Article
Long-term expressed humanα-Galactosidase A in tissues of HαG transgenic mice.
- Published in:
- Pediatrics International, 2004, v. 46, n. 6, p. 673, doi. 10.1111/j.1442-200x.2004.01983.x
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- Publication type:
- Article
Twenty-two novel mutations in the lysosomal α-glucosidase gene (GAA) underscore the genotypephenotype correlation in glycogen storage disease type II (Communicated by Elizabeth Neufeld).
- Published in:
- Human Mutation, 2004, v. 23, n. 1, p. 47, doi. 10.1002/humu.10286
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- Publication type:
- Article
Structural and immunocytochemical studies on α-N-acetylgalactosaminidase deficiency (Schindler/Kanzaki disease).
- Published in:
- Journal of Human Genetics, 2004, v. 49, n. 1, p. 1, doi. 10.1007/s10038-003-0098-z
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- Publication type:
- Article
Structural basis of the GM2 gangliosidosis B variant.
- Published in:
- Journal of Human Genetics, 2003, v. 48, n. 11, p. 582, doi. 10.1007/s10038-003-0082-7
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- Publication type:
- Article