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kw.\*:("Niemann-Pick disease")

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Niemann-Pick disease: lipid storage in bone marrow macrophagesELLEDER, M; HRODEK, J; CIHULA, J et al.Histochemical journal. 1983, Vol 15, Num 11, pp 1065-1077, issn 0018-2214Article

Maculo halo syndrome. Variant of Niemann-Pick diseaseCOGAN, D. G; CHU, F. C; BARRANGER, J. A et al.Archives of ophthalmology (1960). 1983, Vol 101, Num 11, pp 1698-1700, issn 0003-9950Article

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

Niemann-Pick disease group C: clinical variability and diagnosis based on defective cholesterol esterification: a collaborative study on 70 patientsVANIER, M. T; WENGER, D. A; COMLY, M. E et al.Clinical genetics. 1988, Vol 33, Num 5, pp 331-348, issn 0009-9163Article

Histiocytes bleu de mer et maladies de surcharge. Trois observations = «Sea-blue» histiocytes and storage diseases: about three casesAUBERT, I; CHANU, B; BAKIR, R et al.Annales de médecine interne (Paris). 1985, Vol 136, Num 2, pp 133-136, issn 0003-410XArticle

Uptake and metabolism of radioactively labeled sphingomyelin in cultured skin fibroblasts from controls and patients with Niemann-Pick disease and other lysosomal storage diseasesKUDOH, T; VELKOFF, M. A; WENGER, D. A et al.Biochimica et biophysica acta. 1983, Num 754, pp 82-92, issn 0006-3002Article

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

Studies on the activation of sphingomyelinase activity in Niemann-Pick type A, B, and C fibroblasts: enzymological differentiation of types A and BPOULOS, A; RANIERI, E; SHANKARAN, P et al.Pediatric research. 1984, Vol 18, Num 11, pp 1088-1093, issn 0031-3998Article

SHINGOMYELINOSIS, A NEW MUTATION IN THE MOUSE. A MODEL OF NIEMANN-PICK DISEASE IN HUMANSMIYAWAKI S; MITSUOKA S; SAKIYAMA T et al.1982; JOURNAL OF HEREDITY; ISSN 0022-1503; USA; DA. 1982; VOL. 73; NO 4; PP. 257-263; BIBL. 15 REF.Article

THE ROENTGENOGRAPHIC FINDINGS IN THE ACUTE NEURONOPATHIC FORM OF NIEMANN-PICK DISEASE.GRUENEBAUM M.1976; BRIT. J. RADIOL.; G.B.; DA. 1976; VOL. 49; NO 588; PP. 1018-1022; BIBL. 12 REF.Article

NIEMANN-PICK DISEASE TYPE B: PRENATAL DIAGNOSIS AND ENZYMATIC AND CHEMICAL STUDIES ON FETAL BRAIN AND LIVERWENGER DA; KUDOH T; SATTLER M et al.1981; AM. J. HUM. GENET.; ISSN 0002-9297; USA; DA. 1981; VOL. 33; NO 3; PP. 337-344; BIBL. 18 REF.Article

NIEMANN-PICK DISEASE: A GENETIC MODEL IN SIAMESE CATSWENGER DA; SATTLER M; KUDOH T et al.1980; SCIENCE; USA; DA. 1980; VOL. 208; NO 4451; PP. 1471-1473; BIBL. 12 REF.Article

MALADIES HEREDITAIRES PAR SURCHARGE EN SPHINGOMYELINES OU MALADIE DE NIEMANN-PICK. (A PROPOS DE 36 OBSERVATIONS PERSONNELLES).BARATON G.1977; ; S.L.; DA. 1977; PP. 1-127; BIBL. 15 REF.; (THESE DOCT. MED.; CLAUDE BERNARD LYON I)Thesis

GASTROINTESTINAL MANIFESTATIONS OF NIEMANN-PICK DISEASEDINARI G; ROSENBACH Y; GRUNEBAUM M et al.1980; ENZYME; ISSN 0013-9432; CHE; DA. 1980; VOL. 25; NO 6; PP. 407-412; BIBL. 7 REF.Article

MALADIE DE NIEMANN-PICK DE L'ADULTE SUIVIE DE LA NAISSANCE A L'AGE DE 26 ANS. FORME VISCERALE PURE AVEC SURCHARGE EN SPHINGOMYELINE ET DEFICIT EN SPHINGOMYELINASE.BRIERE J; CALMAN F; LAGERON A et al.1976; NOUV. REV. FR. HEMATOL.; FR.; DA. 1976; VOL. 16; NO 2; PP. 185-202; ABS. ANGL.; BIBL. 1 P. 1/2Article

ACTIVATEUR DES SPHINGOHYDROLASES ET NATURE DU DEFICIT EN SPHINGOMYELINASE DANS LA MALADIE DE NIEMANN-PICK TYPE A, B ET C.BARATON G; REVOL A.1977; CLIN. CHIM. ACTA; PAYS BAS; DA. 1977; VOL. 76; NO 3; PP. 339-343; ABS. ANGL.; BIBL. 13 REF.Article

SOMATIC CELL HYBRIDISATION STUDIES SHOWING DIFFERENT GENE MUTATIONS IN NIEMANN-PICK VARIANTSBESLEY GTN; HOOGEBOOM AJM; HOOGEVEEN A et al.1980; HUM. GENET.; DEU; DA. 1980; VOL. 54; NO 3; PP. 409-412; BIBL. 19 REF.Article

CHOLOSTASE D'APPARITION PRECOCE DANS LA MALADIE DE NIEMANN-PICKBURY F; JAEKEN J; EGGERMONT E et al.1979; PEDIATRIE; FRA; DA. 1979; VOL. 34; NO 4; PP. 351-357; ABS. ENG; BIBL. 23 REF.Article

Linear Clinical Progression, Independent of Age of Onset, in Niemann―Pick Disease, Type CYANJANIN, Nicole M; VELEZ, Jorge I; PATTERSON, Marc C et al.American journal of medical genetics. Part B, Neuropsychiatric genetics. 2010, Vol 153, Num 1, pp 132-140, issn 1552-4841, 9 p.Article

Highly variable neural involvement in sphingomyelinase-deficient Niemann-Pick disease caused by an ancestral Gypsy mutationMIHAYLOVA, Violeta; HANTKE, Janina; ANGELICHEVA, Dora et al.Brain. 2007, Vol 130, pp 1050-1061, issn 0006-8950, 12 p., 4Article

Pathological cholesterol metabolism fails to modify electrophysiological properties of afflicted neurones in Niemann-Pick disease type CDEISZ, R. A; MESKE, V; TREIBER-HELD, S et al.Neuroscience. 2005, Vol 130, Num 4, pp 867-873, issn 0306-4522, 7 p.Article

Psychosocial Aspects of Patients With Niemann-Pick Disease, Type BHENDERSON, Shelly L; PACKMAN, Wendy; PACKMAN, Seymour et al.American journal of medical genetics. Part A. 2009, Vol 149, Num 11, pp 2430-2436, issn 1552-4825, 7 p.Article

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

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