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1.
Development of a tool for predicting HNF1B mutations in children and young adults with congenital anomalies of the kidneys and urinary tract.
Pediatr Nephrol;
39(6): 1847-1858, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38196016
2.
Hypomagnesemia is underestimated in children with HNF1B mutations.
Pediatr Nephrol;
35(10): 1877-1886, 2020 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-32388583
3.
Long-term renal outcome in children with OCRL mutations: retrospective analysis of a large international cohort.
Nephrol Dial Transplant;
33(1): 85-94, 2018 01 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-27708066
4.
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.
Am J Case Rep;
22: e928994, 2021 Feb 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-33526762
5.
Hyperuricemia Is an Early and Relatively Common Feature in Children with HNF1B Nephropathy but Its Utility as a Predictor of the Disease Is Limited.
J Clin Med;
10(15)2021 Jul 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-34362049
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