Hana Vlaskova

Prague, PR, Czech Republic

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 22 publications

Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.

Glycogen storage disease type IX: Long-term follow-up of 52 patients from three European countries.

Journal: Molecular genetics and metabolism reports

Published: October 09, 2025

Misprocessing of α -Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response.

Misprocessing of α -Galactosidase A, Endoplasmic Reticulum Stress, and the Unfolded Protein Response.

Journal: Journal of the American Society of Nephrology : JASN

Published: May 17, 2024

Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population.

Clinical and Genetic Study of X-Linked Juvenile Retinoschisis in the Czech Population.

Journal: Genes

Published: October 20, 2021

Autopsy confirmed CADASIL with the c.1490C > T (p.S497L) variant of uncertain causal significance.

Autopsy confirmed CADASIL with the c.1490C > T (p.S497L) variant of uncertain causal significance.

Journal: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

Published: September 30, 2021

Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.

Impact of Newborn Screening and Early Dietary Management on Clinical Outcome of Patients with Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency and Medium Chain Acyl-CoA Dehydrogenase Deficiency-A Retrospective Nationwide Study.

Journal: Nutrients

Published: July 30, 2021

X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations.

X-linked adrenoleukodystrophy: phenotype-genotype correlation in hemizygous males and heterozygous females with ABCD1 mutations.

Journal: Neuro endocrinology letters

Published: August 28, 2020

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.

Pigmentary retinopathy can indicate the presence of pathogenic LAMP2 variants even in somatic mosaic carriers with no additional signs of Danon disease.

Journal: Acta ophthalmologica

Published: December 22, 2019

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.

Transcript, protein, metabolite and cellular studies in skin fibroblasts demonstrate variable pathogenic impacts of NPC1 mutations.

Journal: Orphanet journal of rare diseases

Published: November 27, 2019

Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.

Alu-mediated Xq24 deletion encompassing CUL4B, LAMP2, ATP1B4, TMEM255A, and ZBTB33 genes causes Danon disease in a female patient.

Journal: American journal of medical genetics. Part A

Published: August 02, 2019

Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease.

Amyotrophy, cerebellar impairment and psychiatric disease are the main symptoms in a cohort of 14 Czech patients with the late-onset form of Tay-Sachs disease.

Journal: Journal of neurology

Published: December 02, 2018

LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

LAMP2 exon-copy number variations in Danon disease heterozygote female probands: Infrequent or underdetected?

Journal: American journal of medical genetics. Part A

Published: March 15, 2018

Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient.

Late diagnosis of mucopolysaccharidosis type IVB and successful aortic valve replacement in a 60-year-old female patient.

Journal: Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology

Published: February 07, 2018

Showing 1-12 of 22

Last Updated: 09/26/2026