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Jana Ledvinová

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D Mušálková; E Svobodová; J Honzíková; O Hřebíček; Helena Hulková; L Kuchař; Jana Ledvinová; J Lukáš; Filip Majer; M Hřebíček
Rapid isolation of lysosomal membranes from cultured cells.
Helena Hulková; Ladislav Kuchař; Frantisek Smíd; Jitka Honzíková; Jana Ledvinová; Milan Elleder
Glycosphingolipid profile of the apical pole of human placental capillaries: the relevancy of the observed data to Fabry disease.
L Kuchar; J Rotková; Befekadu Asfaw; J Lenfeld; D Horák; Lucie Korecká; Z Bílková; Jana Ledvinová
Semisynthesis of C17:0 isoforms of sulphatide and glucosylceramide using immobilised sphingolipid ceramide N-deacylase for application in analytical mass spectrometry.

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All Publications

2013: D Mušálková; E Svobodová; J Honzíková; O Hřebíček; Helena Hulková; L Kuchař; Jana Ledvinová; J Lukáš; Filip Majer; M Hřebíček
Rapid isolation of lysosomal membranes from cultured cells.
Folia biologica 2013;59(1):41-6.
2012: Helena Hulková; Ladislav Kuchař; Frantisek Smíd; Jitka Honzíková; Jana Ledvinová; Milan Elleder
Glycosphingolipid profile of the apical pole of human placental capillaries: the relevancy of the observed data to Fabry disease.
Glycobiology 2012;22(5):725-32.
2010: L Kuchar; J Rotková; Befekadu Asfaw; J Lenfeld; D Horák; Lucie Korecká; Z Bílková; Jana Ledvinová
Semisynthesis of C17:0 isoforms of sulphatide and glucosylceramide using immobilised sphingolipid ceramide N-deacylase for application in analytical mass spectrometry.
Rapid communications in mass spectrometry : RCM 2010;24(16):2393-9.
2010: Helena Poupetová; Jana Ledvinová; Linda Berná; Lenka Dvoráková; Viktor Kozich; Milan Elleder
The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations.
Journal of inherited metabolic disease 2010;33(4):387-96.
2010: Jakub Sikora; Jana Urinovská; Filip Majer; Helena Poupetová; Jitka Hlavatá; Marta Kostrouchová; Jana Ledvinová; Martin Hrebícek
Bioinformatic and biochemical studies point to AAGR-1 as the ortholog of human acid alpha-glucosidase in Caenorhabditis elegans.
Molecular and cellular biochemistry 2010;341(1-2):51-63.
2009: H Hůlková; Jana Ledvinová; Helena Poupetová; A Kohout; V Malinová; Milan Elleder
Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process.
Journal of inherited metabolic disease 2009;32(4):551-9.
2009: Ladislav Kuchar; Jana Ledvinová; Martin Hrebícek; Helena Mysková; Lenka Dvoráková; Linda Berná; P Chrastina; Befekadu Asfaw; Milan Elleder; Margret Petermöller; Heidi Mayrhofer; Martin Staudt; Ingeborg Krägeloh-Mann; BC Paton; Klaus Harzer
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.
American journal of medical genetics. Part A 2009;149A(4):613-21.
2008: Jana Keslová-Veselíková; Helena Hůlková; Robert Dobrovolný; Befekadu Asfaw; Helena Poupetová; Linda Berná; Jakub Sikora; Lubor Golán; Jana Ledvinová; Milan Elleder
Replacement of alpha-galactosidase A in Fabry disease: effect on fibroblast cultures compared with biopsied tissues of treated patients.
Virchows Archiv : an international journal of pathology 2008;452(6):651-65.
2005: H Hůlková; Jana Ledvinová; Befekadu Asfaw; K Koubek; K Kopriva; Milan Elleder
Lactosylceramide in lysosomal storage disorders: a comparative immunohistochemical and biochemical study.
Virchows Archiv : an international journal of pathology 2005;447(1):31-44.
2005: Milan Elleder; M Jerábková; A Befekadu; Martin Hrebícek; Linda Berná; Jana Ledvinová; H Hůlková; H Rosewich; N Schymik; BC Paton; Klaus Harzer
Prosaposin deficiency -- a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient.
Neuropediatrics 2005;36(3):171-80.
2005: Robert Dobrovolný; Lenka Dvoráková; Jana Ledvinová; Sudheera Magage; Jan Bultas; Jean C Lubanda; Helena Poupetová; Milan Elleder; Debora Karetová; Martin Hrebícek
Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation.
American journal of medical genetics. Part A 2005;134A(1):84-7.
2005: H Pavlů-Pereira; Befekadu Asfaw; H Poupctová; Jana Ledvinová; Jakub Sikora; marie T vanier; K Sandhoff; Jirí Zeman; Z Novotná; D Chudoba; Milan Elleder
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study.
Journal of inherited metabolic disease 2005;28(2):203-27.
2005: Jana Hujová; Jakub Sikora; Robert Dobrovolný; Helena Poupetová; Jana Ledvinová; Marta Kostrouchová; Martin Hrebícek
Characterization of gana-1, a Caenorhabditis elegans gene encoding a single ortholog of vertebrate alpha-galactosidase and alpha-N-acetylgalactosaminidase.
BMC cell biology 2005;6(1):5.
2004: Linda Berná; Volkmar Gieselmann; Helena Poupetová; Martin Hrebícek; Milan Elleder; Jana Ledvinová
Novel mutations associated with metachromatic leukodystrophy: phenotype and expression studies in nine Czech and Slovak patients.
American journal of medical genetics. Part A 2004;129A(3):277-81.
2002: Befekadu Asfaw; Jana Ledvinová; Robert Dobrovolńy; Henk D Bakker; Robert J Desnick; Otto P van Diggelen; Jan G N de Jong; Tamotsu Kanzaki; Amparo Chabas; Irène Maire; Ernst Conzelmann; Detlev Schindler
Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases.
Journal of lipid research 2002;43(7):1096-104.
2001: Milan Elleder; H Poupĕtová; Jana Ledvinová; Jirí Zeman; S Rosipal; J Kraus
[Lysosomal sphingomyelinase deficiency: spectrum of phenotypes in Czech and Slovak patients].
Casopís lékar̆ů c̆eských 2001;140(24):755-60.
2001: Milan Elleder; H Houstková; Jirí Zeman; Jana Ledvinová; Helena Poupetová
Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease (second complementation group). Report of a case.
Virchows Archiv : an international journal of pathology 2001;439(2):206-11.
2001: Helena Hulková; M Cervenková; Jana Ledvinová; M Tochácková; Martin Hrebícek; Helena Poupetová; A Befekadu; Linda Berná; BC Paton; Klaus Harzer; A Böör; Frantisek Smíd; Milan Elleder
A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation.
Human molecular genetics 2001;10(9):927-40.
2001: Ales Linhart; Jean C Lubanda; Tomas Palecek; Jan Bultas; Debora Karetová; Jana Ledvinová; Milan Elleder; Michael Aschermann
Cardiac manifestations in Fabry disease.
Journal of inherited metabolic disease 2001;24 Suppl 2():75-83; discussion 65.
2000: Helena Poupetová; D Chudoba; Martin Hrebícek; Viktor Kozich; Jana Ledvinová; M Macek; Milan Elleder
[Prenatal diagnosis of lysosomal enzymopathies in the Czech Republic].
Casopís lékar̆ů c̆eských 2000;139(15):468-74.
2000: Ales Linhart; Tomas Palecek; Jan Bultas; J J Ferguson; J Hrudová; Debora Karetová; Jirí Zeman; Jana Ledvinová; Helena Poupetová; Milan Elleder; Michael Aschermann
New insights in cardiac structural changes in patients with Fabry's disease.
American heart journal 2000;139(6):1101-8.
2000: Milan Elleder; Alena Chlumská; Josef Hyánek; H Poupĕtová; Jana Ledvinová; S Maas; P Lohse
Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer.
Journal of hepatology 2000;32(3):528-34.
2000: Milan Elleder; A Chlumska; Jana Ledvinová; Helena Poupetová
Testis - a novel storage site in human cholesteryl ester storage disease. Autopsy report of an adult case with a long-standing subclinical course complicated by accelerated atherosclerosis and liver carcinoma.
Virchows Archiv : an international journal of pathology 2000;436(1):82-7.
1999: Milan Elleder; H Poupĕtová; Jana Ledvinová; Josef Hyánek; Jirí Zeman; Josef Sýkora; Frantisek Stozický; Alena Chlumská; P Lohse
[Lysosomal acid lipase deficiency. Overview of Czech patients].
Casopís lékar̆ů c̆eských 1999;138(23):719-24.
1999: H Hůlková; Jana Ledvinová; H Poupĕtová; Jan Bultas; Jirí Zeman; Milan Elleder
[Postmortem diagnosis of Fabry disease in a female heterozygote leading to the detection of undiagnosed manifest disease in the family].
Casopís lékar̆ů c̆eských 1999;138(21):660-4.
1999: Linda Berná; Befekadu Asfaw; Ernst Conzelmann; B Cerný; Jana Ledvinová
Determination of urinary sulfatides and other lipids by combination of reversed-phase and thin-layer chromatographies.
Analytical biochemistry 1999;269(2):304-11.
1998: Befekadu Asfaw; D Schindler; Jana Ledvinová; B Cerný; Frantisek Smíd; Ernst Conzelmann
Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts.
Journal of lipid research 1998;39(9):1768-80.
1997: Milan Elleder; H Poupĕtová; Jirí Zeman; Martin Hrebícek; Jana Ledvinová; A Baxová; M Podhola
[Mucolipidosis II (I cell disease). First case report in the Czech Republic and prenatal diagnosis in a family].
Casopís lékar̆ů c̆eských 1997;136(22):702-6.
1997: Jana Ledvinová; Helena Poupetová; A Hanácková; M Písacka; Milan Elleder
Blood group B glycosphingolipids in alpha-galactosidase deficiency (Fabry disease): influence of secretor status.
Biochimica et biophysica acta 1997;1345(2):180-7.
1997: Jirí Zeman; Martin Hrebícek; L Vepreková; J Kytnarová; H Houstková; V Malinová; Katerina Hodanová; H Poupĕtová; Jana Ledvinová; Jozef Hoza
[Enzyme therapy in children with severe forms of Gaucher's disease].
Casopís lékar̆ů c̆eských 1997;136(3):95-7.
1996: Martin Hrebícek; Jirí Zeman; J Musilová; Katerina Hodanová; G Herma Renkema; L Vepreková; Jana Ledvinová; D Hrebícek; Jitka Sokolová; johannes aerts; Milan Elleder
A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency.
Virchows Archiv : an international journal of pathology 1996;429(4-5):305-9.
1994: Jana Ledvinová; H Poupĕtová; Milan Elleder; J Tichý; V Pĕnicková; Klaus Harzer
Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria.
Journal of inherited metabolic disease 1994;17(1):118-9.
1993: Jana Ledvinová; Milan Elleder
Filipin test for diagnosis of Niemann-Pick disease type C.
Sborník lékar̆ský 1993;94(2):137-43.
1991: A Karpenko; Milan Elleder; A Jirásek; Jana Ledvinová
[Diagnosis of G(M2) gangliosidosis in routine practice].
Ceskoslovenská patologie 1991;27(1-2):48-54.
1990: V Bradová; F Smid; Jana Ledvinová; C Michalec
Improved one-dimensional thin-layer chromatography for the separation of phospholipids in biological material.
Journal of chromatography 1990;533():297-9.
1990: Milan Elleder; Jana Ledvinová; F Vosmík; Jirí Zeman; D Stejskal; A Lageron
An atypical ultrastructural pattern in Fabry's disease: a study on its nature and incidence in 7 cases.
Ultrastructural pathology 1990;14(6):467-74.
1990: Milan Elleder; V Bradová; Frantisek Smíd; M Budĕsínský; Klaus Harzer; B Kustermann-Kuhn; Jana Ledvinová; V Král; V Dorazilová
Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease. Report on a case simulating hypertrophic non-obstructive cardiomyopathy.
Virchows Archiv. A, Pathological anatomy and histopathology 1990;417(5):449-55.
1986: C Michalec; Jana Ledvinová
TLC of phospholipids. Application in biological material.
Acta Universitatis Carolinae. Medica 1986;32(1-2):47-52.
1985: Milan Elleder; A Jirásek; Frantisek Smíd; Jana Ledvinová; G T Besley
Niemann-Pick disease type C. Study on the nature of the cerebral storage process.
Acta neuropathologica 1985;66(4):325-36.
1984: Milan Elleder; A Jirásek; Frantisek Smíd; Jana Ledvinová; G T Besley; M Stopeková
Niemann-Pick disease type C with enhanced glycolipid storage. Report on further case of so-called lactosylceramidosis.
Virchows Archiv. A, Pathological anatomy and histopathology 1984;402(3):307-17.
1982: J Horejsí; Z Lojda; Jana Ledvinová; C Michalec; M Pilátová; Z Kolman
[An attempt to induce experimental atherosclerosis in rabbits using a cholesterol diet combined with immunization by a gamma globulin fraction with antibody activity against the aortic wall].
Sborník lékar̆ský 1982;84(10):281-7.