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2. Clinical and biochemical diagnostics of Niemann-Pick disease. Maciejko D; Tylki-Szymańska A Klin Padiatr; 1986; 198(2):103-6. PubMed ID: 3009958 [TBL] [Abstract][Full Text] [Related]
3. [Type C Niemann-Pick disease in 2 siblings. Biochemical bases of its diagnosis]. Pámpols T; Pineda M; Ferreter M; Fernández E An Esp Pediatr; 1986 Apr; 24(4):250-6. PubMed ID: 3014938 [TBL] [Abstract][Full Text] [Related]
4. 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]
5. 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]
6. 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]
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9. Hepatic storage of bis(monoacylglycerol) phosphate without concomitant storage of sphingomyelin in a 72-year-old patient with a partial deficiency of sphingomyelinase. Poulos A; Beckman K; Ellis DH; Pollard AC Clin Genet; 1982 Nov; 22(5):234-43. PubMed ID: 6295665 [TBL] [Abstract][Full Text] [Related]
10. Transitory type of sphingomyelinase deficient Niemann-Pick disease: clinical and morphological studies and follow-up of two sisters. Takada G; Satoh W; Komatsu K; Konn Y; Miura Y; Uesaka Y Tohoku J Exp Med; 1987 Sep; 153(1):27-36. PubMed ID: 2823414 [TBL] [Abstract][Full Text] [Related]