Found: 26
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Accidentally detected nephrocalcinosis in a boy with a homozygous R396W mutation in the CYP24A1 gene - 7-year follow-up.
- Published in:
- Polish Journal of Pediatrics / Pediatria Polska, 2023, v. 98, n. 4, p. 357, doi. 10.5114/polp.2023.133542
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- Publication type:
- Article
Nephropathic cystinosis in Poland: a 40 -year retrospective study.
- Published in:
- Polish Archives of Internal Medicine, 2022, v. 132, n. 11, p. 1, doi. 10.20452/pamw.16320
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- Publication type:
- Article
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.74777
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- Publication type:
- Article
Diverse ancestry whole-genome sequencing association study identifies TBX5 and PTK7 as susceptibility genes for posterior urethral valves.
- Published in:
- eLife, 2022, p. 1, doi. 10.7554/eLife.74777
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- Publication type:
- Article
Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis.
- Published in:
- 2021
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- Publication type:
- Case Study
Genome-Wide Survey for Microdeletions or -Duplications in 155 Patients with Lower Urinary Tract Obstructions (LUTO).
- Published in:
- Genes, 2021, v. 12, n. 9, p. 1449, doi. 10.3390/genes12091449
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- Publication type:
- Article
Hyperuricemia Is an Early and Relatively Common Feature in Children with HNF1B Nephropathy but Its Utility as a Predictor of the Disease Is Limited.
- Published in:
- Journal of Clinical Medicine, 2021, v. 10, n. 15, p. 3265, doi. 10.3390/jcm10153265
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- Publication type:
- Article
Analiza objawów klinicznych, czynników ryzyka oraz postępowania diagnostycznego u dzieci z kamicą układu moczowego.
- Published in:
- Paediatrics & Family Medicine / Pediatria i Medycyna Rodzinna, 2021, v. 17, n. 3, p. 234, doi. 10.15557/PiMR.2021.0036
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- Publication type:
- Article
Four Cases of Maturity Onset Diabetes of the Young (MODY) Type 5 Associated with Mutations in the Hepatocyte Nuclear Factor 1 Beta (HNF1B) Gene Presenting in a 13-Year-Old Boy and in Adult Men Aged 33, 34, and 35 Years in Poland.
- Published in:
- American Journal of Case Reports, 2021, p. 1, doi. 10.12659/AJCR.928994
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- Publication type:
- Article
Still diagnosed too late and under-recognized? The first comprehensive report on primary hyperoxaluria in Poland.
- Published in:
- Polish Archives of Internal Medicine, 2020, v. 130, n. 12, p. 1053, doi. 10.20452/pamw.15698
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- Publication type:
- Article
Hypomagnesemia is underestimated in children with HNF1B mutations.
- Published in:
- Pediatric Nephrology, 2020, v. 35, n. 10, p. 1877, doi. 10.1007/s00467-020-04576-6
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- 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
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- Publication type:
- Article
HNF1B nephropathy has a slow-progressive phenotype in childhood—with the exception of very early onset cases: results of the German Multicenter HNF1B Childhood Registry.
- Published in:
- Pediatric Nephrology, 2019, v. 34, n. 6, p. 1065, doi. 10.1007/s00467-018-4188-8
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- Publication type:
- Article
A classic twin study of lower urinary tract obstruction: Report of 3 cases and literature review.
- Published in:
- LUTS, 2019, v. 11, n. 2, p. O85, doi. 10.1111/luts.12222
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- Publication type:
- Article
Whole-Exome Sequencing in Adults With Chronic Kidney Disease: A Pilot Study.
- Published in:
- 2018
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- Publication type:
- journal article
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.
- Published in:
- Nephrology Dialysis Transplantation, 2018, v. 33, n. 1, p. 85, doi. 10.1093/ndt/gfw350
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- Publication type:
- Article
Dent disease in Poland: what we have learned so far?
- Published in:
- International Urology & Nephrology, 2017, v. 49, n. 11, p. 2005, doi. 10.1007/s11255-017-1676-x
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- Publication type:
- Article
Regulation of post-Golgi LH3 trafficking is essential for collagen homeostasis.
- Published in:
- Nature Communications, 2016, v. 7, n. 7, p. 12111, doi. 10.1038/ncomms12111
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- Publication type:
- Article
Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome.
- Published in:
- Pediatric Nephrology, 2015, v. 30, n. 6, p. 931, doi. 10.1007/s00467-014-3013-2
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- Publication type:
- Article
Retrospective cohort study of familial hypomagnesaemia with hypercalciuria and nephrocalcinosis due to CLDN16 mutations.
- Published in:
- Nephrology Dialysis Transplantation, 2015, v. 30, n. 4, p. 636, doi. 10.1093/ndt/gfu374
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- Publication type:
- Article
Is it the right time to subject children with acute kidney injury to rasburicase trials?
- Published in:
- Pediatric Nephrology, 2012, v. 27, n. 7, p. 1201, doi. 10.1007/s00467-012-2127-7
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- Publication type:
- Article
ZESPÓŁ BERDONA: OD USG WEWNĄTRZMACICZNEGO DO ROZPOZNANIA KLINICZNEGO.
- Published in:
- Przeglad Pediatryczny, 2012, v. 42, n. 2, p. 103
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- Publication type:
- Article
Beneficial in vitro effect of N-acetyl-cysteine on oxidative stress and apoptosis.
- Published in:
- Pediatric Nephrology, 2005, v. 20, n. 6, p. 725, doi. 10.1007/s00467-004-1806-4
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- Publication type:
- Article
Apoptosis and antioxidant defense in the nephrotic syndrome.
- Published in:
- Pediatric Nephrology, 2003, v. 18, n. 11, p. 1116, doi. 10.1007/s00467-003-1250-x
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- Publication type:
- Article
Increased apoptosis of peripheral blood lymphocytes in children with nephrotic syndrome.
- Published in:
- Pediatric Nephrology, 2002, v. 17, n. 3, p. 197, doi. 10.1007/s00467-001-0782-1
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- Publication type:
- Article
Th1/Th2 balance and CD45-positive T cell subsets in primary nephrotic syndrome.
- Published in:
- Pediatric Nephrology, 2000, v. 14, n. 7, p. 779, doi. 10.1007/PL00013437
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- Publication type:
- Article