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  1. No Access

    Article

    Natural history of the respiratory involvement in Anderson–Fabry disease

    Anderson–Fabry disease (AFD) is an X-linked disorder caused by deficient activity of enzyme α-galactosidase A, resulting in the accumulation of glycosphingolipids within lysosomes. Pulmonary involvement in AFD...

    S. Magage, J.-C. Lubanda, Z. Susa, J. Bultas… in Journal of Inherited Metabolic Disease (2007)

  2. Article

    Open Access

    Subclinical course of adult visceral Niemann–Pick type C1 disease. A rare or underdiagnosed disorder?

    We present the third case of Niemann–Pick disease type C without neurological symptoms. The patient was a 53-year-old woman without significant prior health problems who died of acute pulmonary embolism. Autop...

    L. Dvorakova, J. Sikora, M. Hrebicek, H. Hulkova… in Journal of Inherited Metabolic Disease (2006)

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  3. No Access

    Article

    Sustained therapeutic effects of oral miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) in type I Gaucher disease

    Summary: It has been shown that treatment with miglustat (Zavesca, N-butyldeoxynojirimycin, OGT 918) improves key clinical features of type I Gaucher disease after 1 year of treatment. This study reports longer-...

    D. Elstein, C. Hollak, J. M. F. G. Aerts… in Journal of Inherited Metabolic Disease (2004)

  4. No Access

    Article

    The role of the iminosugar N-butyldeoxynojirimycin (miglustat) in the management of type I (non-neuronopathic) Gaucher disease: A position statement

    N-Butyldeoxynojirimycin (NB-DNJ, miglustat 'Zavesca') is an orallyactive iminosugar which inhibits the biosynthesis of macromolecular substrates that accumulate pathologically in glycosphingolipidoses. Clinical.....

    T. M. Cox, J. M. F. G. Aerts, G. Andria, M. Beck… in Journal of Inherited Metabolic Disease (2003)

  5. No Access

    Article

    Inhibition of substrate synthesis as a strategy for glycolipid lysosomal storage disease therapy

    The glycosphingolipid (GSL) lysosomal storage diseases are caused by mutations in the genes encoding the glycohydrolases that catabolize GSLs within lysosomes. In these diseases the substrate for the defective...

    F. M. Platt, M. Jeyakumar, U. Andersson… in Journal of Inherited Metabolic Disease (2001)

  6. No Access

    Article

    Incorrect assignment of N370S mutation status by mismatched PCR/RFLP method in two Gaucher patients

    K. Hodaňová, M. Hřebíček, M. Červenková… in Journal of Inherited Metabolic Disease (1997)

  7. No Access

    Article

    Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders

    Immunohistochemical and biochemical studies of subunit c of mitochondrial ATP synthase (SCMAS) storage were carried out in neuronal ceroid lipofuscinosis (NCL) and in a series of unrelated inherited and acqui...

    M. Elleder, J. Sokolová, M. Hřebíček in Acta Neuropathologica (1997)

  8. No Access

    Article

    A case of type I Gaucher disease with cardiopulmonary amyloidosis and chitotriosidase deficiency

    Severe cardiopulmonary amyloidosis developed several months after a total splenectomy in a patient with type 1 Gaucher disease and led within a year to his death at 48 years of age. The autopsy findings were d...

    M. Hřebíček, K. Hodaňová, J. Ledvinová, J. Sokolová, M. Elleder… in Virchows Archiv (1996)

  9. No Access

    Article

    Comparison of the 5’ end of the rat and mouse cystathionine β-synthase genes

    We have isolated and characterized a genomic fragment encompassing the first six exons and 2.6 kbp 5′ flanking sequence of the rat cystathionine β-synthase (CBS) gene. A previously unknown exon approximately 3 kb...

    M. D. Roper, J. R. Straubhaar, E. Kraus, J. Sokolová, M. Hrebícek… in Mammalian Genome (1996)

  10. No Access

    Article

    Riboflavin-responsive epilepsy in a patient with SER209 variant form of short-chain acyl-CoA dehydrogenase

    S. Kmoch, J. Zeman, M. Hrebíček, L. Ryba… in Journal of Inherited Metabolic Disease (1995)

  11. No Access

    Article

    Abstracts of poster presentations

    A. B. Agostinho, F. Rosi, A. Tabucchi, F. Carlucci… in Pharmacy World and Science (1993)

  12. No Access

    Article

    Unusual clinical presentation in two boys with cytochromec oxidase deficiency

    M. Hrebíček, J. Zeman, B. Petrák, V. Kožich… in Journal of Inherited Metabolic Disease (1992)