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protein A
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RNDr. Lenka Dvořáková CSc.
Academic staff at First Faculty of Medicine
83 publications
Publications
publication
Mosaic tissue distribution of the tandem duplication of LAMP2 exons 4 and 5 demonstrates the limits of Danon disease cellular and molecular diagnostics
2014 |
First Faculty of Medicine, Second Faculty of Medicine
publication
Diagnosis and Treatment Options for Niemann-Pick Disease Type C
2012 |
First Faculty of Medicine, Third Faculty of Medicine
publication
X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients
2012 |
First Faculty of Medicine
publication
Danon disease: A focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency
2012 |
First Faculty of Medicine
publication
Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations
2009 |
First Faculty of Medicine
publication
Mucopolysaccharidosis Type I in 21 Czech and Slovak Patients: Mutation Analysis Suggests a Functional Importance of C-Terminus of the IDUA Protein
2009 |
First Faculty of Medicine
publication
Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes
2008 |
First Faculty of Medicine
publication
Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients
2023 |
First Faculty of Medicine
publication
Pitfalls of X-chromosome inactivation testing in females with Fabry disease
2022 |
First Faculty of Medicine
publication
Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease
2021 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University, Faculty of Medicine in Hradec Králové
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