Publikace:

skupina lysosomálních poruch

1994¦1995¦1996¦1997¦1998¦1999¦2000

1994

Danzig, V., Danzigova, Z., Lukas, K., Ort, J., Elleder, M., Campr, V., Sikulova, S.: Amyloid light-chain amyloidosis with primary involvement of the cardiorespiratory system--2 case reports. Vnitr Lek, . 40(2): p. 104-7.

Ledvinova J., Poupetova H., Elleder M, Tichy J, Penickova V and Harzer K: Sialidosis type I: first report in the Czech population of two siblings with cherry-red spot myoclonus syndrome but without sialyloligosacchariduria.  J Inherit Metab Dis, 17(1): 118-9.

Elleder, M.: Adult lysosomal and peroxisomal enzyme diseases and glycogenoses. I. Enzyme diseases with predominant symptoms in the fields of internal medicine, dermatology, orthopedics and ophthalmology. Sb Lek,  95(3): p. 221-30.

Elleder, M.:  Adult lysosomal and peroxisomal enzyme diseases and glycogenoses. II. Enzyme diseases with predominant psychiatric and neurologic symptoms. Sb Lek, 95(3): p. 231-8.

Elleder M, Christomanou H., Kustermann-Kuhn B.: Leptomeningeal lipid storage patterns in Fabry disease. Acta Neuropathol, 88(6): p. 579-82.

1995

Elleder M., Drahota Z, Lisá V, Mares V, Mandys V, Müller J, Palmer DN.: Tissue culture loading test with storage granules from animal models of neuronal ceroid-lipofuscinosis (Batten disease): testing their lysosomal degradability by normal and Batten cells. Am J Med Genet, 57(2): p. 213-21.

1996

Hrebicek, M., J. Zeman, Ledvinová, J. et al. (1996). “A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency.” Virchows Arch 429(4-5): 305-9.

1997

Ledvinova, J., Poupetova, H., Hanackova, A., Pisacka, M., Elleder, M.: Blood group B glycosphingolipids in alpha-galactosidase deficiency (Fabry disease): influence of secretor status. Biochim Biophys Acta 1345(2): 180-7.

Carstea, E.D., Morris, J.A., Coleman, K.G., Loftus, S.K., Zhang, D., Cummings, C., Gu, J., Rosenfeld, M.A., Pavan, W.J., Krizman, D.B., Nagle, J., Polymeropoulos, M.H., Sturley, S.L., Ioannou, Y.A., Higgins, M.E., Comly, M., Cooney, A., Brown, A., Kaneski, C., Blanchette-Mackie, E.J., Dwyer, N.K., Neufeld, E.B., Chang, T.-Y., Liscum, L., Strauss III., J.F., Ohno, K., Zeigler, M., Carmi, R., Sokol, J., Markie, D., O´Neill, R.R., van Diggelen, O.P., Elleder, M., Patterson, M.C., Brady, R.O., Vanier, M.T., Pentchev, P.G., Tagle, D.A.: Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis [see comments]. Science, 277(5323): p. 228-31.

Elleder, M., Poupetova, H., Zeman, J., Hrebicek, M., Ledvinova, J., Baxova, A., Podhola, M.: Mucolipidosis II (I cell disease). First case report in the Czech Republic and prenatal diagnosis in a family. Cas Lek Cesk, 136(22): p. 702-6.

Elleder, M., Sokolova, J., and Hrebicek, M.: Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders. Acta Neuropathol (Berl). 93(4): p. 379-90.

Zeman, J., M. Hrebicek, Veprekova, L., Kytnarova, J., Houstkova, H., Malinova, V., Hodanova, K., Poupetova, H., Ledvinová, J., Hoza, J.: Enzyme therapy in children with severe forms of Gaucher's disease. Cas Lek Cesk 136(3): 95-7.

Pavlu, H. and Elleder, M.: Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. J Inherit Metab Dis, 20(4): p. 615-6.

1998

Elleder, M. and Martin, J.J. : Mucolipidosis type II with evidence of a novel storage site. Virchows Arch,

433(6): p. 575-8

Elleder, M. and Tyynela, J.: Incidence of neuronal perikaryal spheroids in neuronal ceroid lipofuscinoses (Batten disease). Clin Neuropathol, 17(4): p. 184-9.

Elleder, M., Poupetova, H. and Kozich, V.: Fetal pathology in Fabry's disease and mucopolysaccharidosis type I. Cesk Patol,  34(1): p. 7-12.

Asfaw, B., Schindler, D., Ledvinová, J., Cerny, B., Smid, F., Conzelmann, E.: Degradation of blood group A glycolipid A-6-2 by normal and mutant human skin fibroblasts. J Lipid Res 39(9): 1768-80.

1999

Berna, L.,Asfaw, B.,Conzelmann, E.,Cerny, B.,Ledvinová, J.:Determination of urinary sulfatides and other lipids by combination of reversed-phase and thin-layer chromatographies.Anal Biochem, 269(2): 304-11.

Bednarik, J., Nemec, M., Jankovych, J., Vondracek, P, Elleder, M., Dvorak, K., Kadanka, Z.: Adult Form of Krabbe ´s Leukodystrophy. Ceska a Slovenska Neurologie a Neurochirurgie, 62/95(5): p. 292-295.

Borovansky, J., Hach, P., Smetana Jr., K., Elleder, M., Matous-Malbohan, I.: Attempts to Induce Melanosome Degradation in vivo. Folia Biologica, 45: p. 47-52.

Obenberger, J., Seidl, Z., Pavlu, H., Elleder, M.: MRI in an unusually protracted neuronopathic variant of acid sphingomyelinase deficiency. Neuroradiology, 41(3): p. 182-4.

Wang, L., Ou, X., Sebesta, I., Vondrak, K., Krijt, J., Elleder, M., Poupetova, H., Ledvinova, J., Zeman, J., Simmonds, H.A., Tischfield, J.A., Sahota, A.: Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency. Mol Genet Metab, 68(1): p. 78-85.

Hulkova, H., Ledvinova, J., Poupetova, H., Bultas, J., Zeman, J., Elleder, M.: Post-mortem diagnosis of Fabry´s Disease in a Female Heterozygote Leading to the Recognition of Undiagnosed Manifest Disease in the Family. Cas Lek Cesk, 138(21): 660-4.

Stratilova, L., Zeman, J. Houstkova, H., Hansikova, H., Konradova, V., Hůlková, H. , Elleder, M., Ruzicka, E., Tyl, D., Hruba, E., Houstek, J.: Various manifestations of the A8344G mtDNA heteroplasmic mutation in 4 families with the MERRF syndrome. Cas Lek Cesk, 138(13): 401-5.

M. Elleder, B.D. Lake, H.H. Goebel, J. Rapola, M. Haltia and S. Carpenter: Definitions of the Ultrastructural Patterns found in NCL. In: Goebel H.H., Mole S.E., Lake B.D. (Eds.):The Neuronal Ceroid Lipofuscinoses (Batten Disease).Amsterdam, The Netherlands, IOS Press, Ohmsha

90 5199 481 8 (IOS Press)  4 274 90287 0 C3047 (Ohmsha)

9.R.E. Williams, B.D. Lake, M. Elleder and J.D. Sharp: CLN6 Variant Late Infantile/Early Juvenile NCL.

In: Goebel H.H., Mole S.E., Lake B.D. (Eds.): The Neuronal Ceroid Lipofuscinoses (Batten Disease).

Amsterdam, The Netherlands, IOS Press, Ohmsha 90 5199 481 8 (IOS Press)  4 274 90287 0 C3047 (Ohmsha)

2000

Elleder, M., Chlumska, A., Ledvinova, J., Poupetova, H.: 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 Arch, 436(1): p. 82-7

Lohse, P., Maas, S., Lohse, P., Elleder, M., Kirk, J.M., Besley, G.T.N., Seidel, D.: Compound heterozygosity for a Wolman mutation is frequent among patients with cholesteryl ester storage disease. J Lipid Res, 41(1): p. 23-31.

Elleder, M., Chlumska, A., Hyanek, J., Poupetova, H.,  Ledvinova, J., Maas, S., Lohse, P.: Subclinical course of cholesteryl ester storage disease in an adult with hypercholesterolemia, accelerated atherosclerosis, and liver cancer. Journal of Hepatology, 32:528-534.