Zobrazeno 1 - 10
of 826
pro vyhledávání: '"Elleder, M"'
Autor:
Elleder, M.1 melleder@cesnet.cz
Publikováno v:
Acta Paediatrica. Supplement. Dec2003 Supplement 443, Vol. 92 Issue s443, p46-53. 8p.
Autor:
Kohlschütter, A., Williams, R. E., Goebel, H. H., Mole, S. E., Boustany, R. M., van Diggelen, O. P., Elleder, M., Mink, J. W., Niezen de Boer, R., Ribeiro, M. G., Simonati, Alessandro
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1943::9dbfc6c0aacf87247b8535ca172db7e6
http://hdl.handle.net/11562/364161
http://hdl.handle.net/11562/364161
Two families of Greek patients with subclinical to severe cardiomyopathy are presented. The diagnosis of Danon disease was supported by a total lack of LAMP2 immunostaining in cultured skin fibroblasts and muscle biopsies. The LAMP2 mutation carried
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______2127::84d56ee4aae3311fdcbff036f004c54d
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2995779
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:2995779
Autor:
Nijssen, PC, Ceuterick, C, Diggelen, Otto, Elleder, M, Martin, JJ, Teepen, JLJM, Tyynela, J, Roos, RAC
Publikováno v:
Brain Pathology, 13(4), 574-581. Wiley-Blackwell
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=narcis______::50f0ff996c9bcc48da730a08a9d33fb2
https://pure.eur.nl/en/publications/075c5894-33f4-4a3a-aa2f-7de0287d724d
https://pure.eur.nl/en/publications/075c5894-33f4-4a3a-aa2f-7de0287d724d
Autor:
Nijssen, P.C.G., Ceuterick-de Groote, Chantal, van Diggelen, O., Elleder, M., Martin, Jean-Jacques, Roos, R.A.C., Teepen, J.L.J.M., Tyynelä, J.
Publikováno v:
Brain pathology
Autor:
Capková M, Tesarová M, Wenchich L, Cerná L, Hansíková H, Hůlková H, Hrubá E, Elleder M, Jiri Zeman
Publikováno v:
Europe PubMed Central
Kearns-Sayre syndrome is a multisystem disorder caused by rearrangements of mitochondrial genome including various deletions and/or duplications. The aim of the study is to analyse the impact of mitochondrial DNA (mtDNA) deletions on the mitochondria
Autor:
Elleder M, Poupĕtová H, Ledvinová J, Hyánek J, Jiri Zeman, Sýkora J, Stozický F, Chlumská A, Lohse P
Publikováno v:
Europe PubMed Central
Lysosomal lipase deficiency is a hereditary autosomal recessive enzymopathy leading to lysosomal storage of triacylglycerols (TAG) and cholesterol esters (CE). In particular cells with a permanently high receptor-mediated LDL endocytosis are affected
Publikováno v:
Europe PubMed Central
The authors describe the first case of mucolipidosis II in the Czech Republic. The cause of this autosomal recessive hereditary disease is deficient synthesis of mannoso-6-phosphate ligand on precursors of lysosomal enzymes which normally make their
Publikováno v:
Scopus-Elsevier
Thymidine kinase (EC 2.7.1.21) is an enzyme supporting DNA synthesis under conditions of increased cell proliferation. Although it has proved to be a useful marker for various malignant diseases, it has not been tested in malignant melanoma. Thymidin
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