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FAILURE
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MUDr. Helena Hůlková Ph.D.
Academic staff at First Faculty of Medicine
85 publications
Publications
publication
Novel allelic variants and evidence for a prevalent mutation in URAT1 causing renal hypouricemia: biochemical, genetics and functional analysis
2013 |
First Faculty of Medicine, Third Faculty of Medicine, Faculty of Science
publication
Isolated X-Linked Hypertrophic Cardiomyopathy Caused by a Novel Mutation of the Four-and-a-Half LIM Domain 1 Gene
2013 |
First Faculty of Medicine
publication
Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease
2013 |
First Faculty of Medicine
publication
Diagnosis and Treatment Options for Niemann-Pick Disease Type C
2012 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure
2009 |
First Faculty of Medicine
publication
Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41
2005 |
First Faculty of Medicine
publication
Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells
2024 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Hepatology
2022 |
First Faculty of Medicine, Third Faculty of Medicine, Second Faculty of Medicine, Faculty of Medicine in Pilsen, Faculty of Medicine in Hradec Králové
publication
AGAL misprocessing-induced ER stress and the unfolded protein response: lysosomal storage-independent mechanism of Fabry disease pathogenesis?
2022 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Autosomal dominant tubulointerstitial kidney disease: A review
2022 |
First Faculty of Medicine
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