Found: 20
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A case of Fabry nephropathy with histological features of oligonephropathy.
- Published in:
- 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
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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- Publication type:
- Article
Screening of Fabry disease in patients with chronic kidney disease in Japan.
- Published in:
- Nephrology Dialysis Transplantation, 2022, v. 37, n. 1, p. 115, doi. 10.1093/ndt/gfaa324
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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.
- Published in:
- Journal of Nephropathology, 2015, v. 4, n. 3, p. 91, doi. 10.12860/jnp.2015.17
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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
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
Structural and biochemical studies on Pompe disease and a “pseudodeficiency of acid α-glucosidase”.
- Published in:
- 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
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.
- Published in:
- Cell Transplantation, 2023, v. 32, p. 1, doi. 10.1177/09636897231173734
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- Publication type:
- Article
Genetically Modified Cell Transplantation Through Macroencapsulated Spheroids with Scaffolds to Treat Fabry Disease.
- Published in:
- Cell Transplantation, 2021, v. 30, p. 1, doi. 10.1177/09636897211060269
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- Publication type:
- Article
FcRγ-dependent immune activation initiates astrogliosis during the asymptomatic phase of Sandhoff disease model mice.
- Published in:
- Scientific Reports, 2017, p. 40518, doi. 10.1038/srep40518
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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.
- Published in:
- PLoS ONE, 2015, v. 10, n. 12, p. 1, doi. 10.1371/journal.pone.0144958
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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.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0127048
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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.
- Published in:
- PLoS ONE, 2013, v. 8, n. 11, p. 1, doi. 10.1371/journal.pone.0078588
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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
The stable o-phthalaldehyde-ferrocene/6-ferrocenyl-1-hexanethiol pre-column derivatization high-performance liquid chromatography of dimethylarginine by novel dual fluorescence and electrochemical detector.
- Published in:
- Biomedical Chromatography, 2013, v. 27, n. 4, p. 535, doi. 10.1002/bmc.2823
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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
Plasma lyso-Gb3: a biomarker for monitoring fabry patients during enzyme replacement therapy.
- Published in:
- Clinical & Experimental Nephrology, 2018, v. 22, n. 4, p. 843, doi. 10.1007/s10157-017-1525-3
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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