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4. A profound deficiency of (CH3-14C)choline sphingomyelin-cleaving enzyme in Niemann-Pick disease type B. Orii T; Nakamura F; Kudoh T; Tsuchihashi K; Nakao T Tohoku J Exp Med; 1975 Oct; 117(2):193-5. PubMed ID: 174246 [TBL] [Abstract][Full Text] [Related]
5. Studies on pyrophosphate diesterase activity in cultured human fibroblasts: a deficiency in Niemann-Pick disease. Besley GT; Moss SE Clin Chim Acta; 1981 Nov; 117(1):75-84. PubMed ID: 6277531 [TBL] [Abstract][Full Text] [Related]
6. Sphingomyelinases and the genetic defects in Niemann-Pick disease. Callahan JW; Khalil M Adv Exp Med Biol; 1976; 68():367-78. PubMed ID: 7108 [No Abstract] [Full Text] [Related]
7. Niemann-Pick disease, Type C: evidence for the deficiency of an activating factor stimulating sphingomyelin and glucocerebroside degradation. Christomanou H Hoppe Seylers Z Physiol Chem; 1980 Oct; 361(10):1489-502. PubMed ID: 6256275 [TBL] [Abstract][Full Text] [Related]
8. Enzymatic diagnosis of sphingolipidoses. Suzuki K Methods Enzymol; 1987; 138():727-62. PubMed ID: 2885713 [No Abstract] [Full Text] [Related]
9. Chronic Niemann-Pick disease with sphingomyelinase deficiency in two brothers with mental retardation. Sogawa H; Horino K; Nakamura F; Kudoh T; Oyanagi K; Yamanouchi T; Minami R; Nakao T; Watanabe A; Matsuura Y Eur J Pediatr; 1978 Jul; 128(4):235-40. PubMed ID: 208852 [TBL] [Abstract][Full Text] [Related]
10. Sphingomyelinase in cultured skin fibroblasts from normal and Niemann-Pick type C patients. Poulos A; Hudson N; Ranieri E Clin Genet; 1983 Oct; 24(4):225-33. PubMed ID: 6315279 [TBL] [Abstract][Full Text] [Related]
11. [Activators for sphingohydrolases and the nature of the sphingomyelinase deficiency in Niemann-Pick disease types A, B and C (author's transl)]. Baraton G; Revol A Clin Chim Acta; 1977 May; 76(3):339-43. PubMed ID: 192496 [TBL] [Abstract][Full Text] [Related]
12. Chromatofocusing of skin fibroblast sphingomyelinase: alterations in Niemann-Pick disease type C shared by GM1-gangliosidosis. Vanier MT; Rousson R; Louisot P Clin Chim Acta; 1983 May; 130(2):155-61. PubMed ID: 6307547 [TBL] [Abstract][Full Text] [Related]
14. Specific enzymatic diagnosis and ultrastructural analysis of peripheral leukocytes in infantile form of Niemann-Pick sphingomyelinosis. László A; Klujber L; Streitmann K; Barb E Acta Paediatr Hung; 1990; 30(1):99-105. PubMed ID: 2156543 [TBL] [Abstract][Full Text] [Related]
16. Basic findings and current developments in sphingolipidoses. Pilz H; Heipertz R; Seidel D Hum Genet; 1979 Mar; 47(2):113-34. PubMed ID: 108196 [TBL] [Abstract][Full Text] [Related]
17. [Importance of fluorescent lipid substrates for the study of hereditary lysosomal lipidoses. Application to the diagnosis of Niemann-Pick disease]. Douste-Blazy L; Levade T; Salvayre R; Gatt S Bull Acad Natl Med; 1988 Jun; 172(6):807-13. PubMed ID: 2847857 [No Abstract] [Full Text] [Related]
18. Effects of dimethylsulfoxide on sphingomyelinase in cultured human fibroblasts and correction of sphingomyelinase deficiency in fibroblasts from Niemann-Pick patients. Sakuragawa N; Sato M; Yoshida Y; Kamo I; Arima M; Satoyoshi E Biochem Biophys Res Commun; 1985 Jan; 126(2):756-62. PubMed ID: 2983689 [TBL] [Abstract][Full Text] [Related]
19. An animal model of human acid sphingomyelinase deficiency (Niemann-Pick disease) and the study of its enzyme replacement (the Japan Society of Human Genetics award lecture). Kitagawa T Jinrui Idengaku Zasshi; 1987 Jun; 32(2):55-69. PubMed ID: 2830422 [No Abstract] [Full Text] [Related]
20. Lack of acid sphingomyelinase in the mitochondria-lysosome fraction of brain from Niemann-Pick mice. Tsuda M; Owada M; Kitagawa T; Miyawaki S J Inherit Metab Dis; 1985; 8(3):147-8. PubMed ID: 3027450 [No Abstract] [Full Text] [Related] [Next] [New Search]