Found: 106
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Quality of life and mental health status in caregivers of pediatric patients with nephropathic cystinosis.
- Published in:
- 2024
- By:
- Publication type:
- Letter
RenalTube: a network tool for clinical and genetic diagnosis of primary tubulopathies.
- Published in:
- European Journal of Pediatrics, 2013, v. 172, n. 6, p. 775, doi. 10.1007/s00431-013-1934-6
- By:
- Publication type:
- Article
Clinical practice.
- Published in:
- European Journal of Pediatrics, 2011, v. 170, n. 1, p. 15, doi. 10.1007/s00431-010-1334-0
- By:
- Publication type:
- Article
Growth in X-linked hypophosphatemic rickets.
- Published in:
- 2007
- By:
- Publication type:
- journal article
An innovative and collaborative partnership between patients with rare disease and industry-supported registries: the Global aHUS Registry.
- Published in:
- 2016
- By:
- Publication type:
- journal article
An innovative and collaborative partnership between patients with rare disease and industry-supported registries: the Global aHUS Registry.
- Published in:
- Orphanet Journal of Rare Diseases, 2016, v. 11, p. 1, doi. 10.1186/s13023-016-0537-5
- By:
- Publication type:
- Article
Treatment and long-term outcome in primary nephrogenic diabetes insipidus.
- Published in:
- Nephrology Dialysis Transplantation, 2023, v. 38, n. 10, p. 2120, doi. 10.1093/ndt/gfaa243
- By:
- Publication type:
- Article
Peritoneal transformation shortly after kidney transplantation in pediatric patients with preceding chronic peritoneal dialysis.
- Published in:
- Nephrology Dialysis Transplantation, 2023, v. 38, n. 10, p. 2170, doi. 10.1093/ndt/gfad031
- By:
- Publication type:
- Article
Parathyroid hormone and phosphate homeostasis in patients with Bartter and Gitelman syndrome: an international cross-sectional study.
- Published in:
- Nephrology Dialysis Transplantation, 2022, v. 37, n. 12, p. 2474, doi. 10.1093/ndt/gfac029
- By:
- Publication type:
- Article
Clinical and genetic characterization of a cohort of proteinuric patients with biallelic CUBN variants.
- Published in:
- Nephrology Dialysis Transplantation, 2022, v. 37, n. 10, p. 1906, doi. 10.1093/ndt/gfab285
- By:
- Publication type:
- Article
Longitudinal change in proteinuria and kidney outcomes in C3 glomerulopathy.
- Published in:
- Nephrology Dialysis Transplantation, 2022, v. 37, n. 7, p. 1270, doi. 10.1093/ndt/gfab075
- By:
- Publication type:
- Article
Clinical utility of genetic testing in early-onset kidney disease: seven genes are the main players.
- Published in:
- Nephrology Dialysis Transplantation, 2022, v. 37, n. 4, p. 687, doi. 10.1093/ndt/gfab019
- By:
- Publication type:
- Article
Distal renal tubular acidosis: ERKNet/ESPN clinical practice points.
- Published in:
- Nephrology Dialysis Transplantation, 2021, v. 36, n. 9, p. 1585, doi. 10.1093/ndt/gfab171
- By:
- Publication type:
- Article
Cinacalcet use in paediatric dialysis: a position statement from the European Society for Paediatric Nephrology and the Chronic Kidney Disease-Mineral and Bone Disorders Working Group of the ERA-EDTA.
- Published in:
- Nephrology Dialysis Transplantation, 2020, v. 35, n. 1, p. 47, doi. 10.1093/ndt/gfz159
- By:
- Publication type:
- Article
Management of children with congenital nephrotic syndrome: challenging treatment paradigms.
- Published in:
- Nephrology Dialysis Transplantation, 2019, v. 34, n. 8, p. 1369, doi. 10.1093/ndt/gfy165
- By:
- Publication type:
- Article
Treatment and long-term outcome in primary distal renal tubular acidosis.
- Published in:
- Nephrology Dialysis Transplantation, 2019, v. 34, n. 6, p. 981, doi. 10.1093/ndt/gfy409
- By:
- Publication type:
- Article
Novel compound heterozygous mutations of CLDN16 in a patient with familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 11, p. 1, doi. 10.1002/mgg3.1475
- By:
- Publication type:
- Article
Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description.
- Published in:
- Therapeutic Advances in Chronic Disease, 2022, p. 1, doi. 10.1177/20406223221117471
- By:
- Publication type:
- Article
Post-authorisation safety study of burosumab use in paediatric, adolescent and adult patients with X-linked hypophosphataemia: rationale and description.
- Published in:
- Therapeutic Advances in Chronic Disease, 2022, p. 1, doi. 10.1177/20406223221117471
- By:
- Publication type:
- Article
The bone and mineral disorder of children undergoing chronic peritoneal dialysis.
- Published in:
- Kidney International, 2010, v. 78, n. 12, p. 1295, doi. 10.1038/ki.2010.316
- By:
- Publication type:
- Article
Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report.
- Published in:
- 2018
- By:
- Publication type:
- journal article
How peritoneal dialysis transforms the peritoneum and vasculature in children with chronic kidney disease—what can we learn for future treatment?
- Published in:
- Molecular & Cellular Pediatrics, 2022, v. 9, n. 1, p. 1, doi. 10.1186/s40348-022-00141-3
- By:
- Publication type:
- Article
Genetics of Type III Bartter Syndrome in Spain, Proposed Diagnostic Algorithm.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0074673
- By:
- Publication type:
- Article
Claudin-19 Mutations and Clinical Phenotype in Spanish Patients with Familial Hypomagnesemia with Hypercalciuria and Nephrocalcinosis.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0053151
- By:
- Publication type:
- Article
Recomendaciones de manejo de la afectación renal en el complejo esclerosis tuberosa.
- Published in:
- Nefrologia, 2020, v. 40, n. 2, p. 142, doi. 10.1016/j.nefro.2019.07.002
- By:
- Publication type:
- Article
Transición coordinada del paciente con cistinosis desde la medicina pediátrica a la medicina del adulto.
- Published in:
- Nefrologia, 2016, v. 36, n. 6, p. 616, doi. 10.1016/j.nefro.2016.05.012
- By:
- Publication type:
- Article
Actualización en síndrome hemolítico urémico atípico: diagnóstico y tratamiento. Documento de consenso.
- Published in:
- Nefrologia, 2015, v. 35, n. 5, p. 421, doi. 10.1016/j.nefro.2015.07.005
- By:
- Publication type:
- Article
Cistinosis en pacientes adolescentes y adultos: recomendaciones para la atención integral de la cistinosis.
- Published in:
- Nefrologia, 2015, v. 35, n. 3, p. 304, doi. 10.1016/j.nefro.2015.05.019
- By:
- Publication type:
- Article
Actualización en síndrome hemolítico urémico atípico: diagnóstico y tratamiento. Documento de consenso.
- Published in:
- Nefrologia, 2013, v. 33, n. 1, p. 27, doi. 10.3265/Nefrologia.pre2012.Nov.11781
- By:
- Publication type:
- Article
Al Doctor Xosé Manuel Lens Neo (26/06/1957-11/07/2011).
- Published in:
- Nefrologia, 2012, v. 32, n. 5, p. 701, doi. 10.3265/Nefrologia.pre2012.Sep.11745
- By:
- Publication type:
- Article
FGF23 and its role in X-linked hypophosphatemia-related morbidity.
- Published in:
- 2019
- By:
- Publication type:
- journal article
Addressing the psychosocial aspects of transition to adult care in patients with cystinosis.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 10, p. 2861, doi. 10.1007/s00467-024-06345-1
- By:
- Publication type:
- Article
WT1-related disorders: more than Denys-Drash syndrome.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 9, p. 2601, doi. 10.1007/s00467-024-06302-y
- By:
- Publication type:
- Article
Sodium intake and urinary losses in children on dialysis: a European multicenter prospective study.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 10, p. 3389, doi. 10.1007/s00467-023-05932-y
- By:
- Publication type:
- Article
ePHex: a phase 3, double-blind, placebo-controlled, randomized study to evaluate long-term efficacy and safety of Oxalobacter formigenes in patients with primary hyperoxaluria.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 2, p. 403, doi. 10.1007/s00467-022-05591-5
- By:
- Publication type:
- Article
Molecular aspects and long-term outcome of patients with primary distal renal tubular acidosis.
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 10, p. 3133, doi. 10.1007/s00467-021-05066-z
- By:
- Publication type:
- Article
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis.
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 10, p. 3045, doi. 10.1007/s00467-021-04968-2
- By:
- Publication type:
- Article
Plasma intact fibroblast growth factor 23 level is a useful tool for diagnostic approach of renal hypophosphatemia.
- Published in:
- Pediatric Nephrology, 2021, v. 36, n. 4, p. 1025, doi. 10.1007/s00467-020-04906-8
- By:
- Publication type:
- Article
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
- Published in:
- European Journal of Human Genetics, 2015, v. 23, n. 9, p. 1192, doi. 10.1038/ejhg.2014.252
- By:
- Publication type:
- Article
The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data.
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02882-4
- By:
- Publication type:
- Article
Novel mutations associated with inherited human calcium-sensing receptor disorders: A clinical genetic study.
- Published in:
- European Journal of Endocrinology, 2019, v. 180, n. 1, p. 59, doi. 10.1530/EJE-18-0129
- By:
- Publication type:
- Article
Renal antiporter ClC-5 regulates collagen I/IV through the β-catenin pathway and lysosomal degradation.
- Published in:
- Life Science Alliance, 2024, v. 7, n. 7, p. 1, doi. 10.26508/lsa.202302444
- By:
- Publication type:
- Article
Influenza and pneumococcus vaccination rates in pediatric dialysis patients in Europe: recommendations vs reality A European Pediatric Dialysis Working Group and European Society for Pediatric Nephrology Dialysis Working Group study.
- Published in:
- Turkish Journal of Medical Sciences, 2021, v. 51, n. 6, p. 2881, doi. 10.3906/sag-2012-26
- By:
- Publication type:
- Article
Real-world non-interventional post-authorization safety study of long-term use of burosumab in children and adolescents with X-linked hypophosphatemia: first interim analysis.
- Published in:
- Therapeutic Advances in Chronic Disease, 2024, p. 1, doi. 10.1177/20406223241247643
- By:
- Publication type:
- Article
Stress and coping strategies of families of pediatric solid organ transplant recipients in times of pandemic.
- Published in:
- Frontiers in Psychology, 2023, v. 14, p. 1, doi. 10.3389/fpsyg.2023.1067477
- By:
- Publication type:
- Article
Switching from immediate- to extended-release cysteamine in patients with nephropathic cystinosis: from clinical trials to clinical practice.
- Published in:
- Clinical Kidney Journal, 2024, v. 17, n. 4, p. 1, doi. 10.1093/ckj/sfae049
- By:
- Publication type:
- Article
Expert guidance on the multidisciplinary management of cystinosis in adolescent and adult patients.
- Published in:
- Clinical Kidney Journal, 2022, v. 15, n. 9, p. 1675, doi. 10.1093/ckj/sfac099
- By:
- Publication type:
- Article
Development and validation of a nomogram to predict kidney survival at baseline in patients with C3 glomerulopathy.
- Published in:
- Clinical Kidney Journal, 2022, v. 15, n. 9, p. 1737, doi. 10.1093/ckj/sfac108
- By:
- Publication type:
- Article
Eculizumab discontinuation in atypical haemolytic uraemic syndrome: TMA recurrence risk and renal outcomes.
- Published in:
- Clinical Kidney Journal, 2021, v. 14, n. 9, p. 2075, doi. 10.1093/ckj/sfab005
- By:
- Publication type:
- Article
Challenges in primary focal segmental glomerulosclerosis diagnosis: from the diagnostic algorithm to novel biomarkers.
- Published in:
- Clinical Kidney Journal, 2021, v. 14, n. 2, p. 482, doi. 10.1093/ckj/sfaa110
- By:
- Publication type:
- Article