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Editorial: Newborn Screening for Inborn Errors of Metabolism: Is It Time for a Globalized Perspective Based on Genetic Screening?
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.758142
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- Article
Role of P-Glycoprotein Expression and Function in Cystinotic Renal Proximal Tubular Cells.
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- Pharmaceutics, 2011, v. 3, n. 4, p. 782, doi. 10.3390/pharmaceutics3040782
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- Publication type:
- Article
Cystinosis: a review.
- Published in:
- 2016
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- Publication type:
- journal article
Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia.
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- Journal of Clinical Investigation, 2007, v. 117, n. 8, p. 2260, doi. 10.1172/JCI31680
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- Publication type:
- Article
Proposal for individualized dosing of eculizumab in atypical haemolytic uraemic syndrome: patient friendly and cost-effective.
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- Nephrology Dialysis Transplantation, 2023, v. 38, n. 2, p. 362, doi. 10.1093/ndt/gfac056
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- Publication type:
- Article
Plasma exchange or immunoadsorption for recurrent focal segmental glomerulosclerosis: clear differences in vitro.
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- Nephrology Dialysis Transplantation, 2022, v. 37, n. 11, p. 2293, doi. 10.1093/ndt/gfac255
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- Publication type:
- Article
Relevance of repeated analyses of albuminuria and glomerular filtration rate in African children with sickle cell anaemia.
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- British Journal of Haematology, 2024, v. 205, n. 3, p. 1137, doi. 10.1111/bjh.19603
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- Publication type:
- Article
Clinical and genetic factors are associated with kidney complications in African children with sickle cell anaemia.
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- British Journal of Haematology, 2022, v. 196, n. 1, p. 204, doi. 10.1111/bjh.17832
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- Publication type:
- Article
Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction.
- Published in:
- Scientific Reports, 2017, p. 42583, doi. 10.1038/srep42583
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- Publication type:
- Article
Overactivity of Alternative Pathway Convertases in Patients With Complement-Mediated Renal Diseases.
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- Frontiers in Immunology, 2018, p. 1, doi. 10.3389/fimmu.2018.00612
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- Publication type:
- Article
Analysis of Rare Variants in the <i>C3</i> Gene in Patients with Age-Related Macular Degeneration.
- Published in:
- PLoS ONE, 2014, v. 9, n. 4, p. 1, doi. 10.1371/journal.pone.0094165
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- Publication type:
- Article
Optimized Metabolomic Approach to Identify Uremic Solutes in Plasma of Stage 3–4 Chronic Kidney Disease Patients.
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- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0071199
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- Publication type:
- Article
Uremic Toxins Inhibit Transport by Breast Cancer Resistance Protein and Multidrug Resistance Protein 4 at Clinically Relevant Concentrations.
- Published in:
- PLoS ONE, 2011, v. 6, n. 4, p. 1, doi. 10.1371/journal.pone.0018438
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- Publication type:
- Article
Early postnatal gentamicin and ceftazidime treatment in normal and food restricted neonatal wistar rats: Implications for kidney development.
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- Birth Defects Research, 2017, v. 109, n. 15, p. 1228, doi. 10.1002/bdr2.1071
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- Publication type:
- Article
Novel Assays to Distinguish Between Properdin-Dependent and Properdin-Independent C3 Nephritic Factors Provide Insight Into Properdin-Inhibiting Therapy.
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- Frontiers in Immunology, 2019, p. N.PAG, doi. 10.3389/fimmu.2019.01350
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- Publication type:
- Article
Estimated glomerular filtration rate: applicability of creatinine-based equations in African children.
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- Pediatric Nephrology, 2024, v. 39, n. 10, p. 3013, doi. 10.1007/s00467-024-06349-x
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- Publication type:
- Article
Glomerular hyperfiltration: part 2—clinical significance in children.
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- Pediatric Nephrology, 2023, v. 38, n. 8, p. 2529, doi. 10.1007/s00467-022-05826-5
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- Publication type:
- Article
HIV-associated nephropathy in children: challenges in a resource-limited setting.
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- Pediatric Nephrology, 2023, v. 38, n. 8, p. 2509, doi. 10.1007/s00467-022-05819-4
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- Publication type:
- Article
Sickle cell nephropathy: insights into the pediatric population.
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- Pediatric Nephrology, 2022, v. 37, n. 6, p. 1231, doi. 10.1007/s00467-021-05126-4
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- Publication type:
- Article
Long-term follow-up including extensive complement analysis of a pediatric C3 glomerulopathy cohort.
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- Pediatric Nephrology, 2022, v. 37, n. 3, p. 601, doi. 10.1007/s00467-021-05221-6
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- Publication type:
- Article
Functional implications of mutations in the human renal outer medullary potassium channel (ROMK2) identified in Bartter syndrome.
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- Pflügers Archiv: European Journal of Physiology, 2002, v. 443, n. 3, p. 466, doi. 10.1007/s004240100708
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- Publication type:
- Article
A promising pediatric peritoneal dialysis experience in a resource-limited setting with the support of saving young lives program.
- Published in:
- Peritoneal Dialysis International, 2020, v. 40, n. 5, p. 504, doi. 10.1177/0896860819887286
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- Publication type:
- Article
Functional evaluation of complement factor I variants by immunoassays and SDS-PAGE.
- Published in:
- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1279612
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- Publication type:
- Article
Modeling complement activation on human glomerular microvascular endothelial cells.
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- Frontiers in Immunology, 2023, p. 1, doi. 10.3389/fimmu.2023.1206409
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- Publication type:
- Article
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.
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- Brain: A Journal of Neurology, 2009, v. 132, n. 4, p. 833
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- Publication type:
- Article
Different Aspects of Classical Pathway Overactivation in Patients With C3 Glomerulopathy and Immune Complex-Mediated Membranoproliferative Glomerulonephritis.
- Published in:
- Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.715704
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- Publication type:
- Article
Case Report: Variable Pharmacokinetic Profile of Eculizumab in an aHUS Patient.
- Published in:
- Frontiers in Immunology, 2021, v. 11, p. N.PAG, doi. 10.3389/fimmu.2020.612706
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- Publication type:
- Article
Shiga Toxin Selectively Upregulates Expression of Syndecan-4 and Adhesion Molecule ICAM-1 in Human Glomerular Microvascular Endothelium.
- Published in:
- Toxins, 2020, v. 12, n. 7, p. 435, doi. 10.3390/toxins12070435
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- Publication type:
- Article
Continuously Grooved Stent Struts for Enhanced Endothelial Cell Seeding.
- Published in:
- 2017
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- Publication type:
- journal article
Long-term treated HIV infection is associated with platelet mitochondrial dysfunction.
- Published in:
- Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-85775-5
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- Publication type:
- Article
Nephrotic syndrome in a dish: recent developments in modeling in vitro.
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- Pediatric Nephrology, 2020, v. 35, n. 8, p. 1363, doi. 10.1007/s00467-019-4203-8
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- Publication type:
- Article
The role of properdin in complement-mediated renal diseases: a new player in complement-inhibiting therapy?
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- Pediatric Nephrology, 2019, v. 34, n. 8, p. 1349, doi. 10.1007/s00467-018-4042-z
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- Publication type:
- Article
Glyco-iELISA: a highly sensitive and unambiguous serological method to diagnose STEC-HUS caused by serotype O157.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 4, p. 631, doi. 10.1007/s00467-018-4118-9
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- Publication type:
- Article
Interactions of Shiga-like toxin with human peripheral blood monocytes.
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- Pediatric Nephrology, 2007, v. 22, n. 8, p. 1181, doi. 10.1007/s00467-007-0512-4
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- Publication type:
- Article
Strict cysteamine dose regimen is required to prevent nocturnal cystine accumulation in cystinosis.
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- Pediatric Nephrology, 2006, v. 21, n. 1, p. 110, doi. 10.1007/s00467-005-2052-0
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- Publication type:
- Article
A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
- Published in:
- Human Molecular Genetics, 2013, v. 22, n. 4, p. 656, doi. 10.1093/hmg/dds473
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- Publication type:
- Article
Whole Exome Sequencing in Patients with the Cuticular Drusen Subtype of Age-Related Macular Degeneration.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0152047
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- Publication type:
- Article
Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.
- Published in:
- Movement Disorders, 2024, v. 39, n. 7, p. 1225, doi. 10.1002/mds.29795
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- Publication type:
- Article
Novel conditionally immortalized human proximal tubule cell line expressing functional influx and efflux transporters.
- Published in:
- Cell & Tissue Research, 2010, v. 339, n. 2, p. 449, doi. 10.1007/s00441-009-0882-y
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- Publication type:
- Article
Antenatal Bartter syndrome with sensorineural deafness: refinement of the locus on chromosome 1p31.
- Published in:
- Nephrology Dialysis Transplantation, 2000, v. 15, n. 7, p. 970, doi. 10.1093/ndt/15.7.970
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- Publication type:
- Article
Levamisole Modulation of Podocytes' Actin Cytoskeleton in Nephrotic Syndrome.
- Published in:
- Biomedicines, 2023, v. 11, n. 11, p. 3039, doi. 10.3390/biomedicines11113039
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- Publication type:
- Article
Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 12, p. 3294, doi. 10.3390/cells10123294
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- Publication type:
- Article
Novel Human Podocyte Cell Model Carrying G2/G2 APOL1 High-Risk Genotype.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 8, p. 1914, doi. 10.3390/cells10081914
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- Publication type:
- Article
Urine-Derived Epithelial Cells as Models for Genetic Kidney Diseases.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 6, p. 1413, doi. 10.3390/cells10061413
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- Publication type:
- Article
Genetic Renal Diseases: The Emerging Role of Zebrafish Models.
- Published in:
- Cells (2073-4409), 2018, v. 7, n. 9, p. 130, doi. 10.3390/cells7090130
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- Publication type:
- Article
Pharmacology, Pharmacokinetics and Pharmacodynamics of Eculizumab, and Possibilities for an Individualized Approach to Eculizumab.
- Published in:
- 2019
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- Publication type:
- journal article
Immunomodulatory Effects of Chitotriosidase Enzyme.
- Published in:
- Enzyme Research, 2016, p. 1, doi. 10.1155/2016/2682680
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- Publication type:
- Article
Safety and effectiveness of restrictive eculizumab treatment in atypical haemolytic uremic syndrome.
- Published in:
- Nephrology Dialysis Transplantation, 2018, v. 33, n. 4, p. 635, doi. 10.1093/ndt/gfx196
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- Publication type:
- Article
Basolateral transport of the uraemic toxin p-cresyl sulfate: role for organic anion transporters?
- Published in:
- Nephrology Dialysis Transplantation, 2011, v. 26, n. 12, p. 4149, doi. 10.1093/ndt/gfr562
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- Publication type:
- Article
Lack of specific binding of Shiga-like toxin (verocytotoxin) and non-specific interaction of Shiga-like toxin 2 antibody with human polymorphonuclear leucocytes.
- Published in:
- Nephrology Dialysis Transplantation, 2007, v. 22, n. 3, p. 749, doi. 10.1093/ndt/gfl688
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- Publication type:
- Article