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Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Elleder M, Nevoral J, Špičáková V, et al (1986) A new variant of sphingomyelinase deficiency (Niemann-Pick): visceromegaly, minimal neurological lesion and low in vivo degradation rate of sphingomyelin. J Inher Metab Dis 9: 357–366.

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  • Vanier MT, Suzuki K (1996) Niemann-Pick diseases. In Vinken PJ, Bruyn GW, Moser HW, eds. Neurodystrophies and Neurolipidoses, Handbook of Clinical Neurology, Vol. 66/Revised Series Vol. 22. Amsterdam: Elsevier Science, 133–162.

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Authors and Affiliations

  1. Institute for Inborn Errors of Metabolism, First Faculty of Medicine, Charles University and the General Faculty Hospital, Prague, Czech Republic

    H. Pavlů & M. Elleder

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  1. H. Pavlů
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  2. M. Elleder
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Pavlů, H., Elleder, M. Two novel mutations in patients with atypical phenotypes of acid sphingomyelinase deficiency. J Inherit Metab Dis 20, 615–616 (1997). https://doi.org/10.1023/A:1005387932546

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  • DOI: https://doi.org/10.1023/A:1005387932546

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