E-LIB Suche - Ergebnisse für: Poupetova, Helena

1

LysoGb3 quantification facilitates phenotypic categorizatio..:

Kuchar, Ladislav ; Berna, Linda ; Poupetova, Helena...
Clinica Chimica Acta. 561 (2024) - p. 119824 , 2024

2

Long-Term Evaluation of Biomarkers in the Czech Cohort of G..:

Malinová, Věra ; Poupětová, Helena ; Řeboun, Martin...
International Journal of Molecular Sciences. 24 (2023) 19 - p. 14440 , 2023

Link: https://doi.org/10.3390/..

3

Late diagnosis of mucopolysaccharidosis type I in a girl wi..:

Ptáčková, Hana ; Poupětová, Helena ; Vlášková, Hana..
Česko-slovenská pediatrie. 78 (2023) 3 - p. 155-160 , 2023

Link: https://doi.org/10.55095..

4

Pitfalls of X‐chromosome inactivation testing in females wi..:

Řeboun, Martin ; Sikora, Jakub ; Magner, Martin...
American Journal of Medical Genetics Part A. 188 (2022) 7 - p. 1979-1989 , 2022

Link: https://doi.org/10.1002/..

5

Detailed Phenotype of GLA Variants Identified by the Nation..:

Reková, Petra ; Dostálová, Gabriela ; Kemlink, David...
Journal of Clinical Medicine. 10 (2021) 16 - p. 3543 , 2021

Link: https://doi.org/10.3390/..

6

Transcript, protein, metabolite and cellular studies in ski..:

Musalkova, Dita ; Majer, Filip ; Kuchar, Ladislav...
Orphanet Journal of Rare Diseases. 15 (2020) 1 - p. , 2020

Link: https://doi.org/10.1186/..

7

Amyotrophy, cerebellar impairment and psychiatric disease a..:

Jahnová, Helena ; Poupětová, Helena ; Jirečková, Jitka...
Journal of Neurology. 266 (2019) 8 - p. 1953-1959 , 2019

Link: https://doi.org/10.1007/..

8

Late diagnosis of mucopolysaccharidosis type IVB and succes..:

Dostalova, Gabriela ; Hlubocka, Zuzana ; Lindner, Jaroslav...
Cardiovascular Pathology. 35 (2018) - p. 52-56 , 2018

Link: https://doi.org/10.1016/..

9

Diagnosis of neuronal ceroid lipofuscinosis type 2 (CLN2 di..:

Fietz, Michael ; AlSayed, Moeenaldeen ; Burke, Derek...
Molecular Genetics and Metabolism. 119 (2016) 1-2 - p. 160-167 , 2016

Link: https://doi.org/10.1016/..

10

Observational, retrospective study of a large cohort of pat..:

Jahnova, Helena ; Dvorakova, Lenka ; Vlaskova, Hana...
Orphanet Journal of Rare Diseases. 9 (2014) 1 - p. , 2014

Link: https://doi.org/10.1186/..

11

Direct tandem mass spectrometric profiling of sulfatides in..:

Kuchař, Ladislav ; Asfaw, Befekadu ; Poupětová, Helena...
Clinica Chimica Acta. 425 (2013) - p. 153-159 , 2013

Link: https://doi.org/10.1016/..

12

Prevalence of Fabry disease in male patients with unexplain..:

Palecek, Tomas ; Honzikova, Jitka ; Poupetova, Helena...
Journal of Inherited Metabolic Disease. 37 (2013) 3 - p. 455-460 , 2013

Link: https://doi.org/10.1007/..

13

The coincidence of IgA nephropathy and Fabry disease:

Maixnerová, Dita ; Tesař, Vladimír ; Ryšavá, Romana...
BMC Nephrology. 14 (2013) 1 - p. , 2013

Link: https://doi.org/10.1186/..

14

Abnormal nonstoring capillary endothelium: a novel feature ..:

Hůlková, Helena ; Poupětová, Helena ; Harzer, Klaus...
Journal of Inherited Metabolic Disease. 33 (2010) 1 - p. 69-78 , 2010

Link: https://doi.org/10.1007/..

15

Bioinformatic and biochemical studies point to AAGR-1 as th..:

Sikora, Jakub ; Uřinovská, Jana ; Majer, Filip...
Molecular and Cellular Biochemistry. 341 (2010) 1-2 - p. 51-63 , 2010

Link: https://doi.org/10.1007/..