J. Ledvinová - Publications, H-index & Citations

J. Ledvinová

hopital universitaire cochin - aphp

24H指数

79论文数

2.5K被引数

收录论文 19

发表时间

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

CLINICA CHIMICA ACTA

IF2.9

2024-07-01

OAAI

Kuchar, Ladislav; Berna, Linda; Poupetova, Helena; Ledvinova, Jana; Ruzicka, Petr; Dostalova, Gabriela; Reichmannova, Stella; Asfaw, Befekadu; Linhart, Ales; Sikora, Jakub

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

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2020-04-05

OAAI

Musalkova, Dita; Majer, Filip; Kuchar, Ladislav; Luksan, Ondrej; Asfaw, Befekadu; Vlaskova, Hana; Storkanova, Gabriela; Reboun, Martin; Poupetova, Helena; Jahnova, Helena; Hulkova, Helena; Ledvinova, Jana; Dvorakova, Lenka; Sikora, Jakub; Jirsa, Milan; Vanier, Marie T.; Hrebicek, Martin

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

GLYCOBIOLOGY

IF3.3

2018-03-14

OAAI

Rybova, Jitka; Kuchar, Ladislav; Hulkova, Helena; Asfaw, Befekadu; Dobrovolny, Robert; Sikora, Jakub; Havlicek, Vladimir; Skultety, Udovit; Ledvinova, Jana

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

NEUROBIOLOGY OF DISEASE

IF5.6

2017-09-01

OAAI

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

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

MOLECULAR GENETICS AND METABOLISM

IF3.5

2016-02-01

PREAI

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

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

ANALYTICAL AND BIOANALYTICAL CHEMISTRY

IF3.8

2014-12-27

PREAI

Kuchar, Ladislav; Faltyskova, Helena; Krasny, Lukas; Dobrovolny, Robert; Hulkova, Helena; Ledvinova, Jana; Volny, Michael; Strohalm, Martin; Lemr, Karel; Kryspinova, Lenka; Asfaw, Befekadu; Rybova, Jitka; Desnick, Robert J.; Havlicek, Vladimir

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

CLINICA CHIMICA ACTA

IF2.9

2013-10-01

OAAI

Kuchar, Ladislav; Asfaw, Befekadu; Poupetova, Helena; Honzikova, Jitka; Turecek, Frantisek; Ledvinova, Jana

Glycosphingolipid profile of the apical pole of human placental capillaries: The relevancy of the observed data to Fabry disease

GLYCOBIOLOGY

IF3.3

2012-02-07

OAAI

Hulkova, Helena; Ledvinova, Jana; Kuchar, Ladislav; Smid, Frantisek; Honzikova, Jitka; Elleder, Milan

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

MOLECULAR AND CELLULAR BIOCHEMISTRY

IF3.7

2010-03-27

PREAI

Sikora, Jakub; Urinovska, Jana; Majer, Filip; Poupetova, Helena; Hlavata, Jitka; Kostrouchova, Marta; Ledvinova, Jana; Hrebicek, Martin

GM1 Gangliosidosis and Morquio B Disease: Expression Analysis of Missense Mutations Affecting the Catalytic Site of Acid β-Galactosidase

HUMAN MUTATION

IF3.7

2009-08-01

PREAI

Hofer, Doris; Paul, Karl; Fantur, Katrin; Beck, Michael; Buerger, Friederike; Caillaud, Catherine; Fumic, Ksenija; Ledvinova, Jana; Lugowska, Agnieszka; Michelakakis, Helen; Radeva, Briguita; Ramaswami, Uma; Plecko, Barbara; Paschke, Eduard

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

VIRCHOWS ARCHIV

IF3.1

2008-03-20

OAAI

Keslova-Veselikova, Jana; Hulkova, Helena; Dobrovolny, Robert; Asfaw, Befekadu; Poupetova, Helena; Berna, Linda; Sikora, Jakub; Golan, Lubor; Ledvinova, Jana; Elleder, Milan

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

MOLECULAR GENETICS AND METABOLISM

IF3.5

2008-03-01

117

PREAI

Winchester, B.; Bali, D.; Bodamer, O. A.; Caillaud, C.; Christensen, E.; Cooper, A.; Cupler, E.; Deschauer, M.; Fumic, K.; Jackson, M.; Kishnani, P.; Lacerda, L.; Ledvinova, J.; Lugowska, A.; Lukacs, Z.; Maire, I.; Mandel, H.; Mengel, E.; Muller-Felber, W.; Piraud, M.; Reuser, A.; Rupar, T.; Sinigerska, I.; Szlago, M.; Verheijen, F.; van Diggelen, O. P.; Wuyts, B.; Zakharova, E.; Keutzer, J.

Mucolipidosis IV: Report of a case with ocular restricted phenotype caused by leaky splice mutation

AMERICAN JOURNAL OF OPHTHALMOLOGY

IF4.2

2007-04-01

PREAI

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

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

VIRCHOWS ARCHIV

IF3.1

2005-05-26

PREAI

Hulková, H; Ledvinová, J; Asfaw, B; Koubek, K; Kopriva, K; Elleder, M

Defects in degradation of blood group A and B glycosphingolipids in Schindler and Fabry diseases

JOURNAL OF LIPID RESEARCH

IF4.1

2002-07-01

OAAI

Asfaw, B; Ledinová, J; Dobrovolny, R; Bakker, HD; Desnick, RJ; van Diggelen, OP; de Jong, JGN; Kanzaki, T; Chabas, A; Maire, I; Conzelmann, E; Schindler, D

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

AMERICAN HEART JOURNAL

IF3.5

2000-06-01

208

PREAI

Linhart, A; Palecek, T; Bultas, J; Ferguson, JJ; Hrudová, J; Karetová, D; Zeman, J; Ledvinová, J; Poupetová, H; Elleder, M; Aschermann, M

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

JOURNAL OF HEPATOLOGY

IF33

2000-03-01

PREAI