-
1
-
-
0141886877
-
Niemann-Pick disease type C
-
(Mini review)
-
Vanier MT, Millat G (2003) Niemann-Pick disease type C (Mini review). Clin Genet 64:269-281
-
(2003)
Clin. Genet.
, vol.64
, pp. 269-281
-
-
Vanier, M.T.1
Millat, G.2
-
2
-
-
0034672696
-
Niemann-Pick type C: A disorder of cellular cholesterol trafficking
-
Ory DS (2000) Niemann-Pick type C: A disorder of cellular cholesterol trafficking. Biochim Biophys Acta 1529:331-339
-
(2000)
Biochim. Biophys. Acta
, vol.1529
, pp. 331-339
-
-
Ory, D.S.1
-
3
-
-
0000831301
-
Niemann-Pick disease type C: A lipid trafficking disorder
-
Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds) 8th edn. McGraw-Hill, New York
-
Patterson MC, Vanier MT, Suzuki K, Morris JA, Carstea ED, Neufeld EB, Blanchette-Mackie EJ, Pentchev PG (2001) Niemann-Pick disease type C: A lipid trafficking disorder. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Kinzler KW, Vogelstein B (eds) The metabolic and molecular bases of inherited disease, 8th edn. McGraw-Hill, New York, pp 3611-3634
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3611-3634
-
-
Patterson, M.C.1
Vanier, M.T.2
Suzuki, K.3
Morris, J.A.4
Carstea, E.D.5
Neufeld, E.B.6
Blanchette-Mackie, E.J.7
Pentchev, P.G.8
-
4
-
-
0028330236
-
Complementation studies in Niemann-Pick disease type C indicate the existence of a second group
-
Steinberg SJ, Ward CP, Fensom AH (1994) Complementation studies in Niemann-Pick disease type C indicate the existence of a second group. J Med Genet 31:317-320
-
(1994)
J. Med. Genet.
, vol.31
, pp. 317-320
-
-
Steinberg, S.J.1
Ward, C.P.2
Fensom, A.H.3
-
5
-
-
0030863352
-
Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis
-
Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J et al (1997) Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis. Science 277:228-231
-
(1997)
Science
, vol.277
, pp. 228-231
-
-
Carstea, E.D.1
Morris, J.A.2
Coleman, K.G.3
Loftus, S.K.4
Zhang, D.5
Cummings, C.6
Gu, J.7
-
6
-
-
0034755958
-
Niemann-Pick disease type C: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group
-
Millat G, Chikh K, Naureckiene S, Sleat DE, Fensom AH, Higaki K, Elleder M, Lobel P, Vanier MT (2001) Niemann-Pick disease type C: Spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group. Am J Hum Genet 69:1013-1021
-
(2001)
Am. J. Hum. Genet.
, vol.69
, pp. 1013-1021
-
-
Millat, G.1
Chikh, K.2
Naureckiene, S.3
Sleat, D.E.4
Fensom, A.H.5
Higaki, K.6
Elleder, M.7
Lobel, P.8
Vanier, M.T.9
-
7
-
-
0034525126
-
Pulmonary involvement in Niemann-Pick disease: Case report and literature review
-
Minai OA, Sullivan EJ, Stoller JK (2000) Pulmonary involvement in Niemann-Pick disease: Case report and literature review. Respir Med 94:1241-1251
-
(2000)
Respir. Med.
, vol.94
, pp. 1241-1251
-
-
Minai, O.A.1
Sullivan, E.J.2
Stoller, J.K.3
-
8
-
-
0031882520
-
Early lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group
-
Schofer O, Mischo B, Puschel W, Harzer K, Vanier MT (1998) Early lethal pulmonary form of Niemann-Pick type C disease belonging to a second, rare genetic complementation group. Eur J Pediatr 157:45-49
-
(1998)
Eur. J. Pediatr.
, vol.157
, pp. 45-49
-
-
Schofer, O.1
Mischo, B.2
Puschel, W.3
Harzer, K.4
Vanier, M.T.5
-
9
-
-
0036846246
-
Niemann-Pick type C disease: Mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts
-
Tarugi P, Ballarini G, Bembi B, Battisti C, Palmeri S, Panzani F, Di Leo E, Martini C, Federico A, Calandra S (2002) Niemann-Pick type C disease: mutations of NPC1 gene and evidence of abnormal expression of some mutant alleles in fibroblasts. J Lipid Res 43:1908-1919
-
(2002)
J. Lipid Res.
, vol.43
, pp. 1908-1919
-
-
Tarugi, P.1
Ballarini, G.2
Bembi, B.3
Battisti, C.4
Palmeri, S.5
Panzani, F.6
Di Leo, E.7
Martini, C.8
Federico, A.9
Calandra, S.10
-
10
-
-
4644371271
-
Elevation of lung surfactant phosphatidylcholine in mouse models of Sandhoff and Niemann-Pick disease
-
Buccoliero R, Ginzburg L, Futerman AH (2004) Elevation of lung surfactant phosphatidylcholine in mouse models of Sandhoff and Niemann-Pick disease. J Inher Metab Dis 27:641-648
-
(2004)
J. Inher. Metab. Dis.
, vol.27
, pp. 641-648
-
-
Buccoliero, R.1
Ginzburg, L.2
Futerman, A.H.3
-
11
-
-
0029807372
-
Pulmonary infiltration in Niemann-Pick disease type C
-
Kovesi TA, Lee J, Shuckett B, Clarke JTR, Callahan JW, Phillips MJ (1996) Pulmonary infiltration in Niemann-Pick disease type C. J Inher Metab Dis 19:792-793
-
(1996)
J. Inher. Metab. Dis.
, vol.19
, pp. 792-793
-
-
Kovesi, T.A.1
Lee, J.2
Shuckett, B.3
Clarke, J.T.R.4
Callahan, J.W.5
Phillips, M.J.6
-
12
-
-
0027395364
-
The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C
-
Patterson MC, Di Bisceglie AM, Higgins JJ, Abel RB, Schiffmann R, Parker CC, Argoff CE, Grewal RP, Yu K, Pentchev PG et al (1993) The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C. Neurology 43:61-64
-
(1993)
Neurology
, vol.43
, pp. 61-64
-
-
Patterson, M.C.1
Di Bisceglie, A.M.2
Higgins, J.J.3
Abel, R.B.4
Schiffmann, R.5
Parker, C.C.6
Argoff, C.E.7
Grewal, R.P.8
Yu, K.9
Pentchev, P.G.10
-
13
-
-
3242741280
-
Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C
-
Lachmann RH, te Vruchte D, Llyd-Evans E, Reikensmeier G, Sillence DJ, Fernandez-Guillen L, Dwek RA, Butters TD, Cox TM, Platt FM (2004) Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Neurobiol Dis 16:654-658
-
(2004)
Neurobiol. Dis.
, vol.16
, pp. 654-658
-
-
Lachmann, R.H.1
te Vruchte, D.2
Llyd-Evans, E.3
Reikensmeier, G.4
Sillence, D.J.5
Fernandez-Guillen, L.6
Dwek, R.A.7
Butters, T.D.8
Cox, T.M.9
Platt, F.M.10
-
14
-
-
0036143924
-
Successful treatment of endogenous lipoid pneumonia due to Niemann-Pick type B disease with whole-lung lavage
-
Nicholson AG,Wells AU, Hooper J, Hansell DM, Kelleher A, Morgan C (2002) Successful treatment of endogenous lipoid pneumonia due to Niemann-Pick type B disease with whole-lung lavage. Am J Respir Crit Care Med 165:128-131
-
(2002)
Am. J. Respir. Crit. Care Med.
, vol.165
, pp. 128-131
-
-
Nicholson, A.G.1
Wells, A.U.2
Hooper, J.3
Hansell, D.M.4
Kelleher, A.5
Morgan, C.6
|