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

POUZITI AUTOGENNIHO MLYNU VE SKLAERSTVI. = UTILISATION D'UN BROYEUR AUTOGENE POUR LA FABRICATION DU VERRE.HREBICEK M; SVOBODA J.1978; SKLAR A KERAM.; CSK; DA. 1978; VOL. 28; NO 8; PP. 232-234; ABS. RUS/ENG/FRE/GER; BIBL. 5 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

Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disordersELLEDER, M; SOKOLOVA, J; HREBICEK, M et al.Acta neuropathologica. 1997, Vol 93, Num 4, pp 379-390, issn 0001-6322Article

Incorrect assignment of N370S mutation status by mismatched PCR/RFLP method in two Gaucher patientsHODANOVA, K; HREBICEK, M; CERVENKOVA, M et al.Journal of inherited metabolic disease. 1997, Vol 20, Num 4, pp 611-612, issn 0141-8955Article

Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenaseKMOCH, S; ZEMAN, J; HREBICEK, M et al.Journal of inherited metabolic disease. 1995, Vol 18, Num 2, pp 227-229, issn 0141-8955Article

Natural history of the respiratory involvement in Anderson-Fabry diseaseMAGAGE, S; LUBANDA, J.-C; SUSA, Z et al.Journal of inherited metabolic disease. 2007, Vol 30, Num 5, pp 790-799, issn 0141-8955, 10 p.Article

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

The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statementCOX, T. M; AERTS, J. M. F. G; GIRALT, M et al.Journal of inherited metabolic disease. 2003, Vol 26, Num 6, pp 513-526, issn 0141-8955, 14 p.Article