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kw.\*:("Esfingolipidosis hereditaria Niemann Pick")

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A comparison between hepatocytes and macrophages of sphingomyelin, cholesterol and acid lipase in various types of Niemann-Pick diseaseLAGERON, A.Journal of inherited metabolic disease. 1986, Vol 9, pp 311-313, issn 0141-8955, suppl. 2Conference Paper

Effects of drugs on cholesterol esterification in normal and Niemann-Pick type C fibroblasts : AY-9944, other cationic amphiphilic drugs and DMSOYOSHIKAWA, H.Brain & development (Tokyo. 1979). 1991, Vol 13, Num 2, pp 115-120, issn 0387-7604Article

Lectin histochemistry of foamy cells in non-nervous tissues of feline sphingomyelinosisKAMIYA, S; YAMAGAMI, T; UMEDA, M et al.Journal of comparative pathology. 1991, Vol 105, Num 2, pp 241-245, issn 0021-9975Article

Type C Niemann-Pick disease : spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processingVANIER, M. T; RODRIGUEZ-LAFRASSE, C; ROUSSON, R et al.Biochimica et biophysica acta. Molecular basis of disease. 1991, Vol 1096, Num 4, pp 328-337Article

Uptake and intracellular degradation of fluorescent sphingomyelin by fibroblasts from normal individuals and a patient with Niemann-Pick diseaseLEVADE, T; GATT, S.Biochimica et biophysica acta. 1987, Vol 918, Num 3, pp 250-259, issn 0006-3002Article

Niemann-Pick disease type C. Study on the nature of the cerebral storage processELLEDER, M; JIRASEK, A; SMID, F et al.Acta neuropathologica. 1985, Vol 66, Num 4, pp 325-336, issn 0001-6322Article

Niemann-Pick disease type B: clinical signs and follow-up of a new casePAVONE, L; FIUMARA, A; LA ROSA, M et al.Journal of inherited metabolic disease. 1986, Vol 9, Num 1, pp 73-78, issn 0141-8955Article

Niemann-Pick disease: a case reportSAETUNG, P; THAKERNGPOL, K; SONAKUL, D et al.Chot Mai Het Thang Phaet. 1990, Vol 73, Num 11, pp 641-647, issn 0125-2208Article

Defective activity of acyl-CoA:cholesterol O-acyltransferase in Niemann-Pick type C and type D fibroblastsBYERS, D. M; RASTOGI, S. R; COOK, H. W et al.Biochemical journal (London. 1906). 1989, Vol 262, Num 3, pp 713-719, issn 0006-2936, 7 p.Article

Identification and expression of five mutations in the human acid sphingomyelinase gene causing types A and B niemann-pick disease : molecular evidence for genetic heterogeneity in the neuronopathic and non-neuronopathic formsTAKAHASHI, T; SUCHI, M; DESNICK, R. J et al.The Journal of biological chemistry (Print). 1992, Vol 267, Num 18, pp 12552-12558, issn 0021-9258Article

Juvenile dystonia without vertical gaze paralysis: Niemann―Pick type C diseaseFEDERICO, A; PALMERI, S; VAN DIGGELEN, O et al.Journal of inherited metabolic disease. 1986, Vol 9, pp 314-316, issn 0141-8955, suppl. 2Conference Paper

Brain stem auditory evoked potentials in two siblings with Niemann-Pick diseaseAISEN, M; RAPOPORT, S; SOLOMON, G et al.Brain & development (Tokyo. 1979). 1985, Vol 7, Num 4, pp 431-433, issn 0387-7604Article

Clinicopathological conference: one-year-old infant with hepatosplenomegaly and developmental delayBARNESS, L. A; WIEDERHOLD, S; SUNITA CHANDRA et al.American journal of medical genetics. 1987, Vol 28, Num 2, pp 411-431, issn 0148-7299Article

An adult with a non-neuronopathic form of Niemann-Pick C diseaseFENSOM, A. H; GRANT, A. R; STEINBERG, S. J et al.Journal of inherited metabolic disease. 1999, Vol 22, Num 1, pp 84-86, issn 0141-8955Article

Niemann-Pick disease type C : an updateVANIER, M. T; PENTCHEV, P; RODRIGUEZ-LAFRASSE, C et al.Journal of inherited metabolic disease. 1991, Vol 14, Num 4, pp 580-595, issn 0141-8955Conference Paper

Urinary sediment in storage diseases : differential diagnosis of Nieman-Pick disease by cytologic meansSANE, S. Y.Diagnostic cytopathology. 1990, Vol 6, Num 2, pp 122-123, issn 8755-1039Article

Cholestase néonatale : révélation d'une maladie de Niemann-Pick type CVIOLLET, L; LACHASSINNE, E; LEJEUNE, F et al.La Médecine infantile (Paris). 1990, Vol 97, Num 5, pp 405-410, issn 0025-6773Article

Maladie de Niemann-Pick type C (une nouvelle observation) = Nieman-Pick disease type C: report of a new caseBOUGUERRA, L; NOURI, A; MAHERZI, H et al.Revue de pédiatrie (Paris). 1990, Vol 26, Num 6, pp 254-256, issn 0035-1644Article

Successful therapy of Niemann-Pick disease by implantation of human amniotic membraneSCAGGIANTE, B; PINESCHI, A; SUSTERSICH, M et al.Transplantation. 1987, Vol 44, Num 1, pp 59-61, issn 0041-1337Article

Niemann-pick variant lipidosis presenting as neonatal hepatitisSEMERARO, L. A; RIELY, C. A; KOLODNY, E. H et al.Journal of pediatric gastroenterology and nutrition. 1986, Vol 5, Num 3, pp 492-500, issn 0277-2116Article

Development of a Suspicion Index to aid diagnosis of Niemann-Pick disease type CWIJBURG, F. A; SEDEL, F; PINEDA, M et al.Neurology. 2012, Vol 78, Num 20, pp 1560-1567, issn 0028-3878, 8 p.Article

Natural history of type A Niemann-Pick disease : Possible endpoints for therapeutic trialsMCGOVERN, M. M; ARON, A; BRODIE, S. E et al.Neurology. 2006, Vol 66, Num 2, pp 228-232, issn 0028-3878, 5 p.Article

Preimplantation genetic diagnosis for Niemann-Pick disease type BHELLANI, Ali; SCHUCHMAN, Edward H; AL-ODAIB, Ali et al.Prenatal diagnosis. 2004, Vol 24, Num 12, pp 943-948, issn 0197-3851, 6 p.Article

Type C Niemann-Pick disease : biochemical aspects and phenotypic heterogeneityVANIER, M. T; RODRIGUEZ-LAFRASSE, C; ROUSSON, R et al.Developmental neuroscience. 1991, Vol 13, Num 4-5, pp 307-314, issn 0378-5866Article

Type C Niemann-Pick disease : cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterolARGOFF, C. E; COMLY, M. E; BLANCHETTE-MACKIE, J et al.Biochimica et biophysica acta. Molecular basis of disease. 1991, Vol 1096, Num 4, pp 319-327Article

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