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gene-mutations
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RNDr. Lenka Dvořáková CSc.
Academic staff at First Faculty of Medicine
83 publications
Publications
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
Unusual presentation of Kelley-Seegmiller syndrome
2008 |
First Faculty of Medicine, Third Faculty of Medicine
publication
Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase A gene mutation
2005 |
First Faculty of Medicine
publication
Eight novel ABCD1 gene mutations and three polymorphisms in patient with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange
2001 |
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
publication
X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations
2021 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
publication
Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population
2021 |
First Faculty of Medicine, Faculty of Medicine in Hradec Králové
publication
Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient
2020 |
First Faculty of Medicine, Second Faculty of Medicine, Central Library of Charles University
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