Author:
Besley G. T. N.,Hoogeboom A. J. M.,Hoogeveen A.,Kleijer W. J.,Galjaard H.
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference19 articles.
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2. Brady, R. O.: Sphingomyelin lipidosis: Niemann-Pick disease. In: The metabolic basis of inherited disease (J. B. Stanbury, J. B. Wyngaarden, D. S. Fredrickson, eds.), pp. 718?730. New York: McGraw-Hill 1978
3. Callahan, J. W., Khalil, M., Gerrie, J.: Isoenzymes of sphingomyelinase and the genetic defect in Niemann-Pick disease, type C. Biochem. Biophys. Res. Commun. 58, 384?390 (1974)
4. Callahan, J. W., Khalil, M., Philippart, M.: Sphingomyelinases in human tissues. Absence of a specific enzyme from liver and brain of Niemann-Pick disease, type C. Pediatr. Res. 9, 908?913 (1975)
5. Dewhurst, N., Besley, G. T. N., Finlayson, N. D. O., Parker, A. L.: Sea-blue histiocytosis in a patient with chronic nonneuropathic Niemann-Pick disease. J. Clin. Pathol., in press (1980)
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