Helena Poupetova

Prague, PR, Czech Republic

Last Updated: 09/26/2026

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Found 18 publications

Long-term Natural History and Elosulfase Alfa Treatment for Mucopolysaccharidosis Type IVA: A Single-Center Study in the Czech Republic.

Long-term Natural History and Elosulfase Alfa Treatment for Mucopolysaccharidosis Type IVA: A Single-Center Study in the Czech Republic.

Journal: Research square

Published: April 03, 2026

Long-term follow-up and response to elosulfase alfa in mucopolysaccharidosis type IVA: a single-center cohort from the Czech Republic.

Long-term follow-up and response to elosulfase alfa in mucopolysaccharidosis type IVA: a single-center cohort from the Czech Republic.

Journal: Orphanet journal of rare diseases

Published: March 04, 2026

Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients.

Tri-Parametric Assessment of α-Galactosidase A Activity, lysoGb3 and X-Inactivation Aids Genotype-Phenotype Categorization of Fabry Disease Female Patients.

Journal: Journal of inherited metabolic disease

Published: September 29, 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

LysoGb3 quantification facilitates phenotypic categorization of Fabry disease patients: Insights gained by a novel MS/MS method.

LysoGb3 quantification facilitates phenotypic categorization of Fabry disease patients: Insights gained by a novel MS/MS method.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: April 23, 2024

Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.

Long-Term Evaluation of Biomarkers in the Czech Cohort of Gaucher Patients.

Journal: International journal of molecular sciences

Published: August 19, 2023

Pitfalls of X-chromosome inactivation testing in females with Fabry disease.

Pitfalls of X-chromosome inactivation testing in females with Fabry disease.

Journal: American journal of medical genetics. Part A

Published: November 19, 2021

Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.

Detailed Phenotype of GLA Variants Identified by the Nationwide Neurological Screening of Stroke Patients in the Czech Republic.

Journal: Journal of clinical medicine

Published: July 21, 2021

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

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

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

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.

Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases.

Journal: Analytical biochemistry

Published: December 13, 2016

Showing 1-12 of 18

Last Updated: 09/26/2026