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Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy.
Published in:
Journal of Inherited Metabolic Disease, 2001, v. 24, n. 2, p. 275, doi. 10.1023/A:1010335505357
By:
- Platt, F.;
- Jeyakumar, M.;
- Andersson, U.;
- Priestman, D.;
- Dwek, R.;
- Butters, T.;
- Cox, T.;
- Lachmann, R.;
- Hollak, C.;
- Aerts, J.;
- Van Weely, S.;
- Hrebícek, M.;
- Moyses, C.;
- Gow, I.;
- Elstein, D.;
- Zimran, A.
Publication type:
Article
Incorrect assignment of N370S mutation status by mismatched PCR/RFLP method in two Gaucher patients.
Published in:
Journal of Inherited Metabolic Disease, 1997, v. 20, n. 4, p. 611, doi. 10.1023/A:1005331814799
By:
- Hodaňová, K.;
- Hřebíček, M.;
- Červenková, M.;
- Aerts, J.;
- Zeman, J.
Publication type:
Article
Ornithine carbamoyltransferase deficiency: molecular characterization of 29 families.
Published in:
Clinical Genetics, 2013, v. 84, n. 6, p. 552, doi. 10.1111/cge.12085
By:
- Storkanova, G;
- Vlaskova, H;
- Chuzhanova, N;
- Zeman, J;
- Stranecky, V;
- Majer, F;
- Peskova, K;
- Luksan, O;
- Jirsa, M;
- Hrebicek, M;
- Dvorakova, L
Publication type:
Article
Molekulárně genetická diagnostika Niemann-Pickovy choroby typu C.
Published in:
Journal of Czech Physicians / Časopis Lékařů Českých, 2013, v. 152, n. 3, p. 144
By:
- Dvořáková, L.;
- Vlášková, H.;
- Štorkánová, C.;
- Boučková-Hnízdová, M.;
- Trešlová, H.;
- Stolnaya, L.;
- Jahnová, H.;
- Pešková, K.;
- Elleder, M.;
- Hřebíček, M.
Publication type:
Article
Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders.
Published in:
Acta Neuropathologica, 1997, v. 93, n. 4, p. 379, doi. 10.1007/s004010050629
By:
- Elleder, M.;
- Sokolová, J.;
- Hřebíček, M.
Publication type:
Article
Natural history of the respiratory involvement in Anderson–Fabry disease.
Published in:
Journal of Inherited Metabolic Disease, 2007, v. 30, n. 5, p. 790, doi. 10.1007/s10545-007-0616-9
By:
- Magage, S.;
- Lubanda, J.-C.;
- Susa, Z.;
- Bultas, J.;
- Karetová, D.;
- Dobrovolný, R.;
- Hřebíček, M.;
- Germain, D.;
- Linhart, A.
Publication type:
Article
Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease.
Published in:
Journal of Inherited Metabolic Disease, 2004, v. 27, n. 6, p. 757, doi. 10.1023/B:BOLI.0000045756.54006.17
By:
- Elstein, D.;
- Hollak, C.;
- Aerts, J.;
- van Weely, S.;
- Maas, M.;
- Cox, T.;
- Lachmann, R.;
- Hrebicek, M.;
- Platt, F.;
- Butters, T.;
- Dwek, R.;
- Zimran, A.
Publication type:
Article
The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement.
Published in:
Journal of Inherited Metabolic Disease, 2003, v. 26, n. 6, p. 513, doi. 10.1023/A:1025902113005
By:
- Cox, T.;
- Aerts, J.;
- Andria, G.;
- Beck, M.;
- Belmatoug, N.;
- Bembi, B.;
- Chertkoff, R.;
- Vom Dahl, S.;
- Elstein, D.;
- Erikson, A.;
- Giralt, M.;
- Heitner, R.;
- Hollak, C.;
- Hrebicek, M.;
- Lewis, S.;
- Mehta, A.;
- Pastores, G.;
- Rolfs, A.;
- Sa Miranda, M.;
- Zimran, A.
Publication type:
Article
Význam nových laboratorních technik v dia gnostice Niemann-Pickovy choroby typu C.
Published in:
Česká a Slovenská Neurologie a Neurochirurgie, 2020, v. 83, n. 3, p. 263, doi. 10.14735/amcsnn2020263
By:
- Hřebíček, M.;
- Jahnová, H.;
- Dvořáková, L.;
- Majer, F.;
- Mušálková, D.;
- Ledvinová, J.;
- Kuchař, L.
Publication type:
Article
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.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 9, p. 927, doi. 10.1093/hmg/10.9.927
By:
- Hulková, H.;
- Cervenková, M.;
- Ledvinová, J.;
- Tochácková, M.;
- Hrebícek, M.;
- Poupetová, H.;
- Befekadu, A.;
- Berná, L.;
- Paton, B.C.;
- Harzer, K.;
- Böör, A.;
- Šmíd, F.;
- Elleder, M.
Publication type:
Article
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.
Published in:
Human Molecular Genetics, 2001, v. 10, n. 9, p. 927, doi. 10.1093/hmg/10.9.927
By:
- Hulková, H.;
- Cervenková, M.;
- Ledvinová, J.;
- Tochácková, M.;
- Hrebícek, M.;
- Poupetová, H.;
- Befekadu, A.;
- Berná, L.;
- Paton, B.C.;
- Harzer, K.;
- Böör, A.;
- míd, F.;
- Elleder, M.
Publication type:
Article
Eight novel ABCD1 gene mutations and three polymorphisms in patients with X-linked adrenoleukodystrophy: The first polymorphism causing an amino acid exchange.
Published in:
Human Mutation, 2001, v. 18, n. 1, p. 52, doi. 10.1002/humu.1149
By:
- Dvoráková, L.;
- Štorkánová, G.;
- Unterrainer, G.;
- Hujová, J.;
- Kmoch, S.;
- Zeman, J.;
- Hrebícek, M.;
- Berger, J.
Publication type:
Article

Found: 12