Family with Profound Sphingomyelinase Deficiency Resisting Closer Subclassification
作者： Milan Elleder , Jiri Cihula , Jaromir Sverak , Marie-Thérèse Vanier
DOI: 10.1007/978-1-4613-1029-7_18
关键词:
摘要: Deficiency of acid lysosomal sphingomyelinase is the hall-mark first part Niemann-Pick disease complex (Vanier, and Rousson, 1984) which involves types A B Croker’s original classification (Croker, 1961). The second displays entirely different chemical pathology (Elleder Jirasek, 1983) was recently proved to have a quite metabolic basis (Pentchev et al., 1985, Butler 1987).
springer.com
sci-hub.st 参考文章(38)
McKusick Va, Phenotypic diversity of human diseases resulting from allelic series. American Journal of Human Genetics. ,vol. 25, pp. 446- 456 ,(1973)
M. Elleder, Z. Lojda, Studies in lipid histochemistry. XI. New, rapid, simple and selective method for the demonstration of phospholipids. Histochemistry and Cell Biology. ,vol. 36, pp. 149- 166 ,(1973) , 10.1007/BF00304390
D G Cogan, J Barranger, R Gregg, F C Chu, Macula halo syndrome. Transactions of the American Ophthalmological Society. ,vol. 80, pp. 184- 192 ,(1982)
J.C. Maziere, C. Maziere, L. Mora, J.D. Routier, J. Polonovski, In situ degradation of sphingomyelin by cultured normal fibroblasts and fibroblasts from patients with Niemann-Pick disease type A and C. Biochemical and Biophysical Research Communications. ,vol. 108, pp. 1101- 1106 ,(1982) , 10.1016/0006-291X(82)92113-1
P. G. Pentchev, M. E. Comly, H. S. Kruth, M. T. Vanier, D. A. Wenger, S. Patel, R. O. Brady, A defect in cholesterol esterification in Niemann-Pick disease (type C) patients Proceedings of the National Academy of Sciences of the United States of America. ,vol. 82, pp. 8247- 8251 ,(1985) , 10.1073/PNAS.82.23.8247
EL Schneider, PG Pentchev, SR Hibbert, A Sawitsky, RO Brady, None, A new form of Niemann-Pick disease characterised by temperature-labile sphingomyelinase. Journal of Medical Genetics. ,vol. 15, pp. 370- 374 ,(1978) , 10.1136/JMG.15.5.370
H. Christomanou, D. Beyer, Absence of ?-fucosidase activity in two sisters showing a different phenotype European Journal of Pediatrics. ,vol. 140, pp. 27- 29 ,(1983) , 10.1007/BF00661900
Mark H. Lipson, James O'Donnell, J.W. Callahan, David A. Wenger, Seymour Packman, Ocular involvement in Niemann-Pick disease type B. The Journal of Pediatrics. ,vol. 108, pp. 582- 584 ,(1986) , 10.1016/S0022-3476(86)80841-1
M. Elleder, J. Hrodek, J. Čihula, Niemann-Pick disease: lipid storage in bone marrow macrophages. Histochemical Journal. ,vol. 15, pp. 1065- 1077 ,(1983) , 10.1007/BF01003970
J.J. Martin, A. Lowenthal, C. Ceuterick, M.T. Vanier, Juvenile dystonic lipidosis (variant of Niemann-Pick disease type C) Journal of the Neurological Sciences. ,vol. 66, pp. 33- 45 ,(1984) , 10.1016/0022-510X(84)90139-4