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Person
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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
Mutations in ANTXR1 Cause GAPO Syndrome
2013 |
First Faculty of Medicine
publication
Glycosphingolipid profile of the apical pole of human placental capillaries: The relevancy of the observed data to Fabry disease
2012 |
First Faculty of Medicine
publication
Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillaries
2010 |
First Faculty of Medicine
publication
Histochemical detection of GM1 ganglioside using cholera toxin-B subunit. Evaluation of critical factors optimal for in situ detection with special emphasis to acetone pre-extraction
2010 |
First Faculty of Medicine
publication
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis
2010 |
First Faculty of Medicine
publication
Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process
2009 |
First Faculty of Medicine
publication
Subpial astrocytosis and focal leptomeningeal angiotropic astrocytosis leading to vascular compression: observations made in a case of mitochondrial encephalopathy
2008 |
First Faculty of Medicine
publication
Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene
2008 |
First Faculty of Medicine
publication
Abnormal expression and processing of uromodulin in Fabry disease reflects tubular cell storage alteration and is reversible by enzyme replacement therapy
2008 |
First Faculty of Medicine
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