Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting von Winchester, B., Bali, D., Bodamer, O.A., Caillaud, C., Christensen, E., Cooper, A., Cupler, E., Deschauer, M., Fumić, K., Jackson, M., Kishnani, P., Lacerda, L., Ledvinová, J., Lugowska, A., Lukacs, Z., Maire, I., Mandel, H., Mengel, E., Müller-Felber, W., Piraud, M., Reuser, A., Rupar, T., Sinigerska, I., Szlago, M., Verheijen, F., van Diggelen, O.P., Wuyts, B., Zakharova, E., Keutzer, J.

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X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a... von Řeboun, M, Rybová, J, Dobrovolný, R, Včelák, J, Veselková, T, Štorkánová, G, Mušálková, D, Hřebíček, M, Ledvinová, J, Magner, M, Zeman, J, Pešková, K, Dvořáková, L

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New insights in cardiac structural changes in patients with Fabry’s disease von Linhart, Aleš, Paleček, Tomáš, Bultas, Jan, Ferguson, James J., Hrudová, Jana, Karetová, Debora, Zeman, Jiři, Ledvinová, Jana, Poupětová, Helena, Elleder, Milan, Aschermann, Michael

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Cardiac manifestations in Fabry disease von Linhart, A., Lubanda, J.‐C., Palecek, T., Bultas, J., Karetová, D., Ledvinová, J., Elleder, M., Aschermann, M.

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Semisynthesis of C17:0 isoforms of sulphatide and glucosylceramide using immobilised sphingolipid ceramide N-deacylase for application in analytical mass spectrometry von Kuchař, L., Rotková, J., Asfaw, B., Lenfeld, J., Horák, D., Korecká, L., Bílková, Z., Ledvinová, J.

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Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty‐five Czech and Slovak patients. A multi‐approach study von Pavlů‐Pereira, H., Asfaw, B., Poupčtová, H., Ledvinová, J., Sikora, J., Vanier, M. T., Sandhoff, K., Zeman, J., Novotná, Z., Chudoba, D., Elleder, M.

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Autopsy case of Gaucher disease type I in a patient on enzyme replacement therapy. Comments on the dynamics of persistent storage process von Hůlková, H, Ledvinová, J, Poupětová, H, Kohout, A, Malinová, V, Elleder, M

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Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases von Kuchar, L., Sikora, J., Gulinello, M.E., Poupetova, H., Lugowska, A., Malinova, V., Jahnova, H., Asfaw, B., Ledvinova, J.

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Prosaposin Deficiency - a Rarely Diagnosed, Rapidly Progressing, Neonatal Neurovisceral Lipid Storage Disease. Report of a Further Patient von Elleder, M., Jeřábková, M., Befekadu, A., Hřebíček, M., Berná, L., Ledvinová, J., Hůlková, H., Rosewich, H., Schymik, N., Paton, B. C., Harzer, K.

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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... von HULKOVA, H, CERVENKOVA, M, BÖÖR, A, SMID, F, ELLEDER, M, LEDVINOVA, J, TOCHACKOVA, M, HREBICEK, M, POUPETOVA, H, BEFEKADU, A, BERNA, L, PATON, B. C, HARZER, K

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Rapid isolation of lysosomal membranes from cultured cells von Mušálková, D, Lukáš, J, Majer, F, Hřebíček, O, Svobodová, E, Kuchař, L, Honzíková, J, Hůlková, H, Ledvinová, J, Hřebíček, M

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Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer von ELLEDER, M, CHLUMSKA, A, HYANEK, J, POUPETOVA, H, LEDVINOVA, J, MAAS, S, LOHSE, P

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Lactosylceramide in lysosomal storage disorders. A comparative immunohistochemical and biochemical study von HULKOVA, H, LEDVINOVA, J, ASFAW, B, KOUBEK, K, KOPRIVA, K, ELLEDER, M

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Pulmonary storage with emphysema as a sign of Niemann-Pick type C2 disease (second complementation group). Report of a case von ELLEDER, M, HOUSTKOVA, H, ZEMAN, J, LEDVINOVA, J, POUPETOVA, H

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Determination of Urinary Sulfatides and Other Lipids by Combination of Reversed-Phase and Thin-Layer Chromatographies von Berná, Linda, Asfaw, Befekadu, Conzelmann, Ernst, Černý, Bohuslav, Ledvinová, Jana

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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 atherosc... von ELLEDER, M, CHLUMSKA, A, LEDVINOVA, J, POUPETOVA, H

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A nationwide blood spot screening study for Fabry disease in the Czech Republic haemodialysis patient population von Merta, Miroslav, Reiterova, Jana, Ledvinova, Jana, Poupětová, Helena, Dobrovolný, Robert, Ryšavá, Romana, Maixnerová, Dita, Bultas, Jan, Motáň, Jiří, Slivkova, Jitka, Sobotova, Doris, Smrzova, Jana, Tesař, Vladimir

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Semisynthesis of C17:0 isoforms of sulphatide and glucosylceramide using immobilised sphingolipid ceramide N-deacylase for application in analytical mass spectrometry: Semisynthesi... von Kuchař, L., Rotková, J., Asfaw, B., Lenfeld, J., Horák, D., Korecká, L., Bílková, Z., Ledvinová, J.

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Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts von Asfaw, B, Schindler, D, Ledvinová, J, Cerný, B, Smíd, F, Conzelmann, E

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Cardiocyte storage and hypertrophy as a sole manifestation of Fabry's disease: Report on a case simulating hypertrophic non-obstructive cardiomyopathy von Elleder, M., Bradová, V., Smíd, F., BudĚšínský, M., Harzer, K., Kustermann-Kuhn, B., Ledvinová, J., BĚlohlávek, Král, V., Dorazilová, V.

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