J. Ledvinová: search on Z-Library

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1

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

B. Winchester, D. Bali, O.A. Bodamer, C. Caillaud, E. Christensen, A. Cooper, E. Cupler, M. Deschauer, K. Fumić, M. Jackson, P. Kishnani, L. Lacerda, J. Ledvinová, A. Lugowska, Z. Lukacs, I. Maire, H.

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 141 KB

english, 2008

2

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

Musalkova, Dita, Majer, Filip, Kuchar, Ladislav, Luksan, Ondrej, Asfaw, Befekadu, Vlaskova, Hana, Storkanova, Gabriela, Reboun, Martin, Poupetova, Helena, Jahnova, Helena, Hulkova, Helena, Ledvinova,

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 1.59 MB

2020

3

Novel mutations associated with metachromatic leukodystrophy: Phenotype and expression studies in nine Czech and Slovak patients

Linda Berná, Volkmar Gieselmann, Helena Poupětová, Martin Hřebíček, Milan Elleder, Jana Ledvinová

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 75 KB

english, 2004

4

Recurrence of Fabry disease as a result of paternal germline mosaicism for α-galactosidase a gene mutation

Robert Dobrovolný, Lenka Dvořáková, Jana Ledvinová, Sudheera Magage, Jan Bultas, Jean C. Lubanda, Helena Poupětová, Milan Elleder, Debora Karetová, Martin Hřebíček

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 78 KB

english, 2005

5

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

Ladislav Kuchař, Jana Ledvinová, Martin Hřebíček, Helena Myšková, Lenka Dvořáková, Linda Berná, Petr Chrastina, Befekadu Asfaw, Milan Elleder, Margret Petermöller, Heidi Mayrhofer, Martin Staudt, Inge

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 298 KB

english, 2009

6

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β-galactosidase

Doris Hofer, Karl Paul, Katrin Fantur, Michael Beck, Friederike Bürger, Catherine Caillaud, Ksenija Fumic, Jana Ledvinova, Agnieszka Lugowska, Helen Michelakakis, Briguita Radeva, Uma Ramaswami, Barba

Journal:

Year:

2009

Language:

english

File:

PDF, 290 KB

english, 2009

7

Determination of Urinary Sulfatides and Other Lipids by Combination of Reversed-Phase and Thin-Layer Chromatographies

Linda Berná, Befekadu Asfaw, Ernst Conzelmann, Bohuslav Černý, Jana Ledvinová

Journal:

Analytical Biochemistry

Year:

1999

Language:

english

File:

PDF, 323 KB

english, 1999

8

Improved one-dimensional thin-layer chromatography for the separation of phospholipids in biological material

V. Bradová, F. Šmid, J. Ledvinová, Č. Michalec

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Year:

1990

Language:

english

File:

PDF, 225 KB

english, 1990

9

Characterization ofgana-1, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate α-galactosidase and α-N-acetylgalactosaminidase

Jana Hujová, Jakub Sikora, Robert Dobrovolný, Helena Poupětová, Jana Ledvinová, Marta Kostrouchová, Martin Hřebíček

Journal:

BMC Cell Biology

Year:

2005

Language:

english

File:

PDF, 2.59 MB

english, 2005

10

Semisynthesis of C17:0 isoforms of sulphatide and glucosylceramide using immobilised sphingolipid ceramide N-deacylase for application in analytical mass spectrometry

L. Kuchař, J. Rotková, B. Asfaw, J. Lenfeld, D. Horák, L. Korecká, Z. Bílková, J. Ledvinová

Journal:

Rapid Communications in Mass Spectrometry

Year:

2010

Language:

english

File:

PDF, 234 KB

english, 2010

11

Niemann-Pick disease type C

M. Elleder, A. Jirásek, F. Šmíd, J. Ledvinová, G. T. N. Besley

Journal:

Acta Neuropathologica

Year:

1985

Language:

english

File:

PDF, 2.16 MB

english, 1985

12

Niemann-Pick disease type C with enhanced glycolipid storage

M. Elleder, A. Jirásek, F. Šmíd, J. Ledvinová, G. T. N. Besley, M. Stopeková

Journal:

Virchows Archiv

Year:

1984

Language:

english

File:

PDF, 849 KB

english, 1984

13

Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria

J. Ledvinová, H. Poupětová, M. Elleder, J. Tichý, V. Pěničková, K. Harzer

Journal:

Journal of Inherited Metabolic Disease

Year:

1994

Language:

english

File:

PDF, 131 KB

english, 1994

14

Subclinical course of cholesterol ester storage disease (CESD) diagnosed in adulthood

M. Elleder, J. Ledvinová, P. Cieslar, R. Kuhn

Journal:

Virchows Archiv

Year:

1990

Language:

english

File:

PDF, 3.32 MB

english, 1990

15

Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease

M. Elleder, V. Bradová, F. Smíd, M. BudĚšínský, K. Harzer, B. Kustermann-Kuhn, J. Ledvinová, BĚlohlávek, V. Král, V. Dorazilová

Journal:

Virchows Archiv

Year:

1990

Language:

english

File:

PDF, 1.71 MB

english, 1990

16

Testis – a novel storage site in human cholesteryl ester storage disease

M. Elleder, A. Chlumska, J. Ledvinová, H. Poupe˙tová

Journal:

Virchows Archiv

Year:

2000

Language:

english

File:

PDF, 847 KB

english, 2000

17

Relationship between X-inactivation and clinical involvement in Fabry heterozygotes. Eleven novel mutations in the α-galactosidase A gene in the Czech and Slovak population

Robert Dobrovolny, Lenka Dvorakova, Jana Ledvinova, Sudheera Magage, Jan Bultas, Jean C. Lubanda, Milan Elleder, Debora Karetova, Marketa Pavlikova, Martin Hrebicek

Journal:

Journal of Molecular Medicine

Year:

2005

Language:

english

File:

PDF, 191 KB

english, 2005

18

Lactosylceramide in lysosomal storage disorders. A comparative immunohistochemical and biochemical study

H. Hůlková, J. Ledvinová, B. Asfaw, K. Koubek, K. Kopřiva, M. Elleder

Journal:

Virchows Archiv

Year:

2005

Language:

english

File:

PDF, 879 KB

english, 2005

19

Replacement of α-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients

Jana Keslová-Veselíková, Helena Hůlková, Robert Dobrovolný, Befekadu Asfaw, Helena Poupětová, Linda Berná, Jakub Sikora, Lubor Goláň, Jana Ledvinová, Milan Elleder

Journal:

Virchows Archiv

Year:

2008

Language:

english

File:

PDF, 1.23 MB

english, 2008

20

A new fluorimetric enzyme assay for the diagnosis of Niemann–Pick A/B, with specificity of natural sphingomyelinase substrate

O. P. van Diggelen, Ya. V. Voznyi, J. L. M. Keulemans, K. Schoonderwoerd, J. Ledvinova, E. Mengel, M. Zschiesche, R. Santer, K. Harzer

Journal:

Journal of Inherited Metabolic Disease

Year:

2005

Language:

english

File:

PDF, 922 KB

english, 2005

21

Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study

H. Pavlů-Pereira, B. Asfaw, H. Poupčtová, J. Ledvinová, J. Sikora, M. T. Vanier, K. Sandhoff, J. Zeman, Z. Novotná, D. Chudoba, M. Elleder

Journal:

Journal of Inherited Metabolic Disease

Year:

2005

Language:

english

File:

PDF, 303 KB

english, 2005

22

Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process

H. Hůlková, J. Ledvinová, H. Poupětová, A. Kohout, V. Malinová, M. Elleder

Journal:

Journal of Inherited Metabolic Disease

Year:

2009

Language:

english

File:

PDF, 774 KB

english, 2009

23

The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

Helena Poupětová, Jana Ledvinová, Linda Berná, Lenka Dvořáková, Viktor Kožich, Milan Elleder

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 205 KB

english, 2010

24

Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid α-glucosidase inCaenorhabditis

Jakub Sikora, Jana Uřinovská, Filip Majer, Helena Poupětová, Jitka Hlavatá, Marta Kostrouchová, Jana Ledvinová, Martin Hřebíček

Journal:

Molecular and Cellular Biochemistry

Year:

2010

Language:

english

File:

PDF, 577 KB

english, 2010

25

Biochemistry of sphingolipids : XXVII. Thin-layer microchromatography of DNP derivatives of long-chain bases on silufolUV 254 sheets

Č. Michalec, J. Ledvinová-Reinišová, Z. Kolman

Journal:

Journal of Chromatography A

Year:

1980

Language:

english

File:

PDF, 235 KB

english, 1980

26

Ultrastructural and functional abnormalities of mitochondria in cultivated fibroblasts fromα-mannosidosis patients

Olga Brantova, Befekadu Asfaw, Jana Sladkova, Helena Poupetova, Jan Zivny, Martin Magner, Jan Krusek, Katerina Vesela, Hana Hansikova, Jana Ledvinova, Marketa Tesarova, Jiri Zeman

Journal:

Year:

2009

Language:

english

File:

PDF, 550 KB

english, 2009

27

Cardiac manifestations in Fabry disease

A. Linhart, J.-C. Lubanda, T. Palecek, J. Bultas, D. Karetová, J. Ledvinová, M. Elleder, M. Aschermann

Journal:

Journal of Inherited Metabolic Disease

Year:

2001

Language:

english

File:

PDF, 977 KB

english, 2001

28

Erratum to Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease (second complementation group)

Elleder, M., Houštková, H., Zeman, J., Ledvinová, J., Poupětová, H.

Journal:

Virchows Archiv

Year:

2001

Language:

english

File:

PDF, 13 KB

english, 2001

29

FABRY DISEASE – CLINICAL MANIFESTATIONS AND GENETICS

D. Karetova, J. Bultas, A. Linhart, J.C. Lubanda, S. Magage, P. Uklikova, T. Palecek, J. Ledvinova, H. Poupetova, R. Dobrovolny, M. Hrebicek, M. Elleder

Journal:

Acta Paediatrica

Year:

2006

Language:

english

File:

PDF, 65 KB

english, 2006

30

Characteristic binding of human plasma apolipoprotein B to gangliotetraosylceramide and gangliotriaosylceramide

Jana LEDVINOVA, Masao IWAMORI, Yoshitaka NAGAI

Journal:

Year:

1990

Language:

english

File:

PDF, 472 KB

english, 1990

31

Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency

L. Wang, X. Ou, I. Sebesta, K. Vondrak, J. Krijt, M. Elleder, H. Poupetova, J. Ledvinova, J. Zeman, H.A. Simmonds, J.A. Tischfield, A. Sahota

Journal:

Molecular Genetics and Metabolism

Year:

1999

Language:

english

File:

PDF, 159 KB

english, 1999

32

Mucolipidosis IV: Report of a Case with Ocular Restricted Phenotype Caused by Leaky Splice Mutation

Robert Dobrovolny, Petra Liskova, Jana Ledvinova, Helena Poupetova, Befekadu Asfaw, Martin Filipec, Katerina Jirsova, Josef Kraus, Milan Elleder

Journal:

American Journal of Ophthalmology

Year:

2007

Language:

english

File:

PDF, 2.04 MB

english, 2007

33

Blood group B glycosphingolipids in α-galactosidase deficiency (Fabry disease): influence of secretor status

Jana Ledvinová, Helena Poupětová, Alžběta Hanáčková, Martin Pı́sačka, Milan Elleder

Journal:

Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism

Year:

1997

Language:

english

File:

PDF, 434 KB

english, 1997

34

New insights in cardiac structural changes in patients with Fabry’s disease

Aleš Linhart, Tomáš Paleček, Jan Bultas, James J. Ferguson, Jana Hrudová, Debora Karetová, Jiři Zeman, Jana Ledvinová, Helena Poupětová, Milan Elleder, Michael Aschermann

Journal:

American Heart Journal

Year:

2000

Language:

english

File:

PDF, 157 KB

english, 2000

35

A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency

Hřebíček, M., Hodaňová, K., Ledvinová, J., Sokolová, J., Elleder, M., Zeman, J., Vepřeková, L., Musilová, J., Aerts, J. M. F. G., Renkema, G. H., Hřebíček, D.

Journal:

Virchows Archiv

Year:

1996

Language:

english

File:

PDF, 1.52 MB

english, 1996

36

Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer

Milan Elleder, Alena Chlumská, Josef Hyánek, Helena Poupětová, Jana Ledvinová, Sylke Maas, Peter Lohse

Journal:

Journal of Hepatology

Year:

2000

Language:

english

File:

PDF, 829 KB

english, 2000

37

Direct tandem mass spectrometric profiling of sulfatides in dry urinary samples for screening of metachromatic leukodystrophy

Kuchař, Ladislav, Asfaw, Befekadu, Poupětová, Helena, Honzíková, Jitka, Tureček, František, Ledvinová, Jana

Journal:

Clinica Chimica Acta

Year:

2013

Language:

english

File:

PDF, 648 KB

english, 2013

38

Effects of clinically relevant acute hypercapnic and metabolic acidosis on the cardiovascular system: an experimental porcine study

Stengl, Milan, Ledvinova, Lenka, Chvojka, Jiri, Benes, Jan, Jarkovska, Dagmar, Holas, Jaromir, Soukup, Patrik, Sviglerová, Jitka, Matejovic, Martin

Journal:

Critical Care (BioMed Central)

Year:

2013

Language:

english

File:

PDF, 419 KB

english, 2013

39

An Atypical Ultrastructural Pattern in Fabry's Disease: A Study on Its Nature and Incidence in 7 Cases

Elleder, M., Ledvinová, J., Vosmik, F., Zeman, J., Stejskal, D., Lageron, A.

Journal:

Ultrastructural Pathology

Year:

1990

Language:

english

File:

PDF, 876 KB

english, 1990

40

Fabry disease: renal sphingolipid distribution in the α-Gal A knockout mouse model by mass spectrometric and immunohistochemical imaging

Kuchar, Ladislav, Faltyskova, Helena, Krasny, Lukas, Dobrovolny, Robert, Hulkova, Helena, Ledvinova, Jana, Volny, Michael, Strohalm, Martin, Lemr, Karel, Kryspinova, Lenka, Asfaw, Befekadu, Rybová, Ji

Journal:

Analytical and Bioanalytical Chemistry

Year:

2015

Language:

english

File:

PDF, 1.08 MB

english, 2015

41

FABRY DISEASE – CLINICAL MANIFESTATIONS AND GENETICS

Karetova, D., Bultas, J., Linhart, A., Lubanda, J.C., Magage, S., Uklikova, P., Palecek, T., Ledvinova, J., Poupetova, H., Dobrovolny, R., Hrebicek, M., Elleder, M.

Journal:

Acta Paediatrica

Year:

2006

Language:

english

File:

PDF, 72 KB

english, 2006

42

Prosaposin Deficiency - a Rarely Diagnosed, Rapidly Progressing, Neonatal Neurovisceral Lipid Storage Disease. Report of a Further Patient

M. Elleder, M. Jeřábková, A. Befekadu, M. Hřebíček, L. Berná, J. Ledvinová, H. Hůlková, H. Rosewich, N. Schymik, B. C. Paton, K. Harzer

Year:

2005

Language:

english

File:

PDF, 1.43 MB

english, 2005

43

A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population

Merta, M., Reiterova, J., Ledvinova, J., Poupetova, H., Dobrovolny, R., Rysava, R., Maixnerova, D., Bultas, J., Motan, J., Slivkova, J., Sobotova, D., Smrzova, J., Tesar, V.

Journal:

Nephrology Dialysis Transplantation

Year:

2006

Language:

english

File:

PDF, 187 KB

english, 2006

44

Assessment of n-butyl-deoxynojirimycin as a therapeutic option for mucolipidosis type IV

Boudewyn, Lauren C., Sikora, Jakub, Kuchar, Ladislav, Ledvinova, Jana, Walkley, Steven U.

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 48 KB

english, 2016

45

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

Kuchar, L., Sikora, J., Gulinello, M.E., Poupetova, H., Lugowska, A., Malinova, V., Jahnova, H., Asfaw, B., Ledvinova, J.

Journal:

Analytical Biochemistry

Year:

2017

Language:

english

File:

PDF, 632 KB

english, 2017

46

N -butyldeoxynojirimycin delays motor deficits, cerebellar microgliosis, and Purkinje cell loss in a mouse model of mucolipidosis type IV

Boudewyn, Lauren C., Sikora, Jakub, Kuchar, Ladislav, Ledvinova, Jana, Grishchuk, Yulia, Wang, Shirley L., Dobrenis, Kostantin, Walkley, Steven U.

Journal:

Neurobiology of Disease

Year:

2017

Language:

english

File:

PDF, 3.48 MB

english, 2017

47

Neural cells generated from human induced pluripotent stem cells as a model of CNS involvement in mucopolysaccharidosis type II

Rybová, Jitka, Ledvinová, Jana, Sikora, Jakub, Kuchař, Ladislav, Dobrovolný, Robert

Journal:

Journal of Inherited Metabolic Disease

Year:

2017

Language:

english

File:

PDF, 5.19 MB

english, 2017

48

Specific storage of glycoconjugates with terminal α-galactosyl moieties in the exocrine pancreas of Fabry disease patients with blood group B

Rybová, Jitka, Kuchař, Ladislav, Hůlková, Helena, Asfaw, Befekadu, Dobrovolný, Robert, Sikora, Jakub, Havlíček, Vladimír, Škultéty, Ľudovít, Ledvinová, Jana

Journal:

Year:

2018

Language:

english

File:

PDF, 891 KB

english, 2018

49

Filter-Aided Sample Preparation Procedure for Mass Spectrometric Analysis of Plant Histones

Ledvinová, Dominika, Mikulášek, Kamil, Kuchaříková, Hana, Brabencová, Sylva, Fojtová, Miloslava, Zdráhal, Zbyněk, Lochmanová, Gabriela

Journal:

Frontiers in Plant Science

Year:

2018

Language:

english

File:

PDF, 2.17 MB

english, 2018

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