Works matching AU Emma, Francesco
Results: 111
C3 glomerulopathy in children: a European longitudinal study evaluating outcome.
- Published in:
- Pediatric Nephrology, 2025, v. 40, n. 4, p. 979, doi. 10.1007/s00467-024-06587-z
- By:
- Publication type:
- Article
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia.
- Published in:
- Human Mutation, 2015, v. 36, n. 12, p. 1155, doi. 10.1002/humu.22860
- By:
- Publication type:
- Article
Distribution of cystinosin-LKG in human tissues.
- Published in:
- Histochemistry & Cell Biology, 2012, v. 138, n. 2, p. 351, doi. 10.1007/s00418-012-0958-8
- By:
- Publication type:
- Article
Oligonephronia and Wolf‐Hirschhorn syndrome: A further observation.
- Published in:
- American Journal of Medical Genetics. Part A, 2018, v. 176, n. 2, p. 409, doi. 10.1002/ajmg.a.38554
- By:
- Publication type:
- Article
Renal Tubular Dysfunction Fully Accounts for Plasma Biochemical Abnormalities in Type 1A Pseudohypoparathyroidism.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Renal Mitochondrial Cytopathies.
- Published in:
- 2011
- By:
- Publication type:
- Journal Article
Renal Mitochondrial Cytopathies.
- Published in:
- International Journal of Nephrology, 2011, p. 1, doi. 10.4061/2011/609213
- By:
- Publication type:
- Article
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
- Published in:
- Human Mutation, 2009, v. 30, n. 2, p. E432, doi. 10.1002/humu.20924
- By:
- Publication type:
- Article
ANTERIOR ISCHEMIC OPTICAL NEUROPATHY IN CHILDREN ON CHRONIC PERITONEAL DIALYSIS: REPORT OF 7 CASES.
- Published in:
- Peritoneal Dialysis International, 2015, v. 35, n. 2, p. 135, doi. 10.3747/pdi.2013.00330
- By:
- Publication type:
- Article
Biomarkers in Nephropathic Cystinosis: Current and Future Perspectives.
- Published in:
- Cells (2073-4409), 2022, v. 11, n. 11, p. 1839, doi. 10.3390/cells11111839
- By:
- 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
- By:
- Publication type:
- Article
A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome.
- Published in:
- Journal of Human Genetics, 2006, v. 51, n. 11, p. 1030, doi. 10.1007/s10038-006-0049-6
- By:
- Publication type:
- Article
Angiotensin-converting enzyme (ACE) haplotypes and cyclosporine A (CsA) response: a model of the complex relationship between ACE quantitative trait locus and pathological phenotypes.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 16, p. 2357, doi. 10.1093/hmg/ddi238
- By:
- Publication type:
- Article
Cardiac Abnormalities in Children with Autosomal Recessive Polycystic Kidney Disease.
- Published in:
- CardioRenal Medicine, 2019, v. 9, n. 3, p. 180, doi. 10.1159/000496473
- By:
- Publication type:
- Article
CISTINURIA.
- Published in:
- Giornale Italiano di Nefrologia, 2010, v. 27, n. 1, p. 30
- By:
- Publication type:
- Article
Effect of tape width and thickness on helix slow-wave structure performance.
- Published in:
- Microwave & Optical Technology Letters, 1999, v. 23, n. 3, p. 147, doi. 10.1002/(SICI)1098-2760(19991105)23:3<147::AID-MOP5>3.0.CO;2-F
- By:
- Publication type:
- Article
On the TWT based on a helix slow-wave structure sustained by rectangular dielectric rods.
- Published in:
- Microwave & Optical Technology Letters, 1999, v. 20, n. 3, p. 177, doi. 10.1002/(SICI)1098-2760(19990205)20:3<177::AID-MOP8>3.0.CO;2-E
- By:
- Publication type:
- Article
Nlrp2 deletion ameliorates kidney damage in a mouse model of cystinosis.
- Published in:
- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1373224
- By:
- Publication type:
- Article
A novel flow cytometry panel to identify prognostic markers for steroid-sensitive forms of idiopathic nephrotic syndrome in childhood.
- Published in:
- Frontiers in Immunology, 2024, p. 1, doi. 10.3389/fimmu.2024.1379924
- 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
Carboxyl-Terminal SSLKG Motif of the Human Cystinosin-LKG Plays an Important Role in Plasma Membrane Sorting.
- Published in:
- PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0154805
- By:
- Publication type:
- Article
XLH Matters 2022: Insights and recommendations to improve outcomes for people living with X-linked hypophosphataemia (XLH).
- Published in:
- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 2, p. 1, doi. 10.1186/s13023-023-02883-3
- 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
Clinical and genetic characteristics of Dent's disease type 1 in Europe.
- Published in:
- Nephrology Dialysis Transplantation, 2023, v. 38, n. 6, p. 1497, doi. 10.1093/ndt/gfac310
- 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
Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome.
- Published in:
- Nephrology Dialysis Transplantation, 2020, v. 35, n. 7, p. 1195, doi. 10.1093/ndt/gfy333
- By:
- Publication type:
- Article
Is there long-term value of pathology scoring in immunoglobulin A nephropathy? A validation study of the Oxford Classification for IgA Nephropathy (VALIGA) update.
- Published in:
- Nephrology Dialysis Transplantation, 2020, v. 35, n. 6, p. 1002, doi. 10.1093/ndt/gfy302
- 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
Outcome of childhood-onset full-house nephropathy.
- Published in:
- Nephrology Dialysis Transplantation, 2017, v. 32, n. 7, p. 1194, doi. 10.1093/ndt/gfw230
- By:
- Publication type:
- Article
Recommendations for the use of tolvaptan in autosomal dominant polycystic kidney disease: a position statement on behalf of the ERA-EDTA Working Groups on Inherited Kidney Disorders and European Renal Best Practice.
- Published in:
- Nephrology Dialysis Transplantation, 2016, v. 31, n. 3, p. 337, doi. 10.1093/ndt/gfv456
- By:
- Publication type:
- Article
Attualità in nefrologia pediatrica: le conoscenze di rilievo per il nefrologo dell’adulto.
- Published in:
- Giornale di Clinica Nefrologica e Dialisi, 2021, v. 33, n. 1, p. 67, doi. 10.33393/gcnd.2021.2248
- By:
- Publication type:
- Article
Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2021, v. 13, n. 3, p. 347, doi. 10.4274/jcrpe.galenos.2020.2020.0064
- By:
- Publication type:
- Article
Clinical utility gene card for: Cystinosis.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 5, p. 1, doi. 10.1038/ejhg.2013.204
- By:
- Publication type:
- Article
Nephropathic cystinosis: an international consensus document.
- Published in:
- Nephrology Dialysis Transplantation, 2014, v. 29, n. suppl_4, p. iv87, doi. 10.1093/ndt/gfu090
- By:
- Publication type:
- Article
Lupus nephritis in children and adolescents: results of the Italian Collaborative Study.
- Published in:
- Nephrology Dialysis Transplantation, 2013, v. 28, n. 6, p. 1487, doi. 10.1093/ndt/gfs589
- By:
- Publication type:
- Article
The ERA-EDTA Working Group on inherited kidney disorders.
- Published in:
- Nephrology Dialysis Transplantation, 2012, v. 27, n. 1, p. 67, doi. 10.1093/ndt/gfr764
- By:
- Publication type:
- Article
Genetic risk factors in typical haemolytic uraemic syndrome.
- Published in:
- Nephrology Dialysis Transplantation, 2009, v. 24, n. 6, p. 1851
- By:
- Publication type:
- Article
Phenotypic and genetic heterogeneity in Dent's disease—the results of an Italian collaborative study.
- Published in:
- Nephrology Dialysis Transplantation, 2006, v. 21, n. 9, p. 2452, doi. 10.1093/ndt/gfl274
- By:
- Publication type:
- Article
Severe syncope and sudden death in children with inborn salt-losing hypokalaemic tubulopathies.
- Published in:
- Nephrology Dialysis Transplantation, 2005, v. 20, n. 9, p. 1981, doi. 10.1093/ndt/gfh893
- By:
- Publication type:
- Article
Prolonged Impairment of Immunological Memory After Anti-CD20 Treatment in Pediatric Idiopathic Nephrotic Syndrome.
- Published in:
- Frontiers in Immunology, 2019, p. 1, doi. 10.3389/fimmu.2019.01653
- By:
- Publication type:
- 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
Childhood-onset IgA nephropathy: is long-term recovery possible?
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 6, p. 1837, doi. 10.1007/s00467-023-06259-4
- By:
- Publication type:
- Article
A child with semaphorin 3b-associated membranous nephropathy effectively treated with obinutuzumab after rituximab resistance.
- Published in:
- Pediatric Nephrology, 2024, v. 39, n. 1, p. 305, doi. 10.1007/s00467-023-06085-8
- By:
- Publication type:
- Article
Successful treatment with avacopan (CCX168) in a pediatric patient with C3 glomerulonephritis.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 12, p. 4197, doi. 10.1007/s00467-023-06035-4
- By:
- Publication type:
- Article
A pediatric case of IgA nephropathy benefitting from targeted release formulation–budesonide.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 11, p. 3849, doi. 10.1007/s00467-023-05968-0
- By:
- Publication type:
- Article
Treatment of idiopathic nephrotic syndrome at onset: a comparison between 8- and 12-week regimens in everyday clinical practice.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 7, p. 2101, doi. 10.1007/s00467-022-05824-7
- By:
- Publication type:
- Article
Outcomes of steroid-resistant nephrotic syndrome in children not treated with intensified immunosuppression.
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 5, p. 1499, doi. 10.1007/s00467-022-05762-4
- By:
- Publication type:
- Article
Circulating plasmablasts in children with steroid-sensitive nephrotic syndrome.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 2, p. 455, doi. 10.1007/s00467-021-05273-8
- By:
- Publication type:
- Article
Belimumab for the treatment of children with frequently relapsing nephrotic syndrome: the BELNEPH study.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 2, p. 377, doi. 10.1007/s00467-021-05175-9
- By:
- Publication type:
- Article
Update on the treatment of steroid-sensitive nephrotic syndrome.
- Published in:
- Pediatric Nephrology, 2022, v. 37, n. 2, p. 303, doi. 10.1007/s00467-021-04983-3
- By:
- Publication type:
- Article