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juvenile hyperuricemic nephropathy
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A Primary Transcript Map for the Familial Juvenile Hyperuricemic Nephropathy (FJHN) Critical Region on Chromosome 16p11. 2
Publication without faculty affiliation
publication
Familial juvenile hyperuricemic nephropathy (FJHN): Localization of the gene on chromosome 16p11. 2-and evidence for genetic heterogenity (3)
2000 |
First Faculty of Medicine
publication
Familial juvenile hyperuricemic nephropathy (FJHN): Localization of the gene on chromosome 16P11. 2 and evidence for genetic heterogenity
Publication without faculty affiliation
publication
Familial juvenile hyperuricemic nephropathy (FJHN): Localization of the gene on chromosome 16P11. 2 and evidence fo genetic heterogeneity (1)
Publication without faculty affiliation
publication
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41
2005 |
First Faculty of Medicine
publication
Autosomal dominant tubulointerstitial kidney disease
2019 |
First Faculty of Medicine
publication
Novel mutation in genes for frequent X-linked metabolic diseases (X-ALD, Fabry disease, OTC deficiency). A prevalent mutation for late onset form of OTC deficiency
Publication without faculty affiliation
publication
Diagnostic aspects of familial juvenile hyperuricaemic nephropathy
2005 |
First Faculty of Medicine
publication
Mapping of a new candidate locus for uromodulin-associated kidney disease
2005 |
Faculty of Physical Education and Sport
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Analysis of excretion fraction of uric acid
2006 |
First Faculty of Medicine
publication
Analysis of excretion fraction of uric acid
2006 |
Faculty of Physical Education and Sport
publication
Uromodulin biology and pathophysiology - an update
2010 |
First Faculty of Medicine
publication
Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management-A KDIGO consensus report
2015 |
First Faculty of Medicine
publication
Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome
2006 |
First Faculty of Medicine