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TEKANI SLOZEK OPALOVE SKLOVINY KALENE FLUORIDY = VOLATISATION DES COMPOSANTS D'UNE FONTE DE VERRE OPACIFIE AU FLUORUREHREBICKOVA S; HREBICEK M.1979; SILIKATY; CSK; DA. 1979; VOL. 23; NO 3; PP. 251-261; ABS. RUS/ENG; BIBL. 6 REF.Article
Mechanism and kinetics of fluorine vaporization losses IHREBICEK, M; HREBICKOVA, J.Silikáty. 1985, Vol 29, Num 1, pp 1-11, issn 0037-5241Article
A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiencyHREBICEK, M; ZEMAN, J; ELLEDER, M et al.Virchows Archiv. 1996, Vol 429, Num 4-5, pp 305-309, issn 0945-6317Article
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 accumulationHULKOVA, H; CERVENKOVA, M; BÖÖR, A et al.Human molecular genetics (Print). 2001, Vol 10, Num 9, pp 927-940, issn 0964-6906Article
Prosaposin deficiency : a rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patientELLEDER, M; JERABKOVA, M; HARZER, K et al.Neuropediatrics. 2005, Vol 36, Num 3, pp 171-180, issn 0174-304X, 10 p.Article
Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesisCOX, T; LACHMANN, R; GOW, I et al.Lancet (British edition). 2000, Vol 355, Num 9214, pp 1481-1485, issn 0140-6736Article
Unusual clinical presentation in two boys with cytochrome c oxidase deficiencyHREBICEK, M; ZEMAN, J; PETRAK, B et al.Journal of inherited metabolic disease. 1992, Vol 15, Num 3, pp 320-322, issn 0141-8955Conference Paper
Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher diseaseELSTEIN, D; HOLLAK, C; DWEK, R. A et al.Journal of inherited metabolic disease. 2004, Vol 27, Num 6, pp 757-766, issn 0141-8955, 10 p.Article
Clinical and biochemical phenotype in 11 patients with mevalonic aciduriaHOFFMANN, G. F; CHARPENTIER, C; TREFZ, F. K et al.Pediatrics (Evanston). 1993, Vol 91, Num 5, pp 915-921, issn 0031-4005Article
Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapyPLATT, F. M; JEYAKUMAR, M; VAN WEELY, S et al.Journal of inherited metabolic disease. 2001, Vol 24, Num 2, pp 275-290, issn 0141-8955Conference Paper