-
1
-
-
0000721551
-
A defect in cholesterol esterification in Niemann-Pick disease (type C) patients
-
Pentchev PG, Comly ME, Kruth HS et al. A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proc Natl Acad Sci USA 1985; 82: 8247-8251.
-
(1985)
Proc Natl Acad Sci USA
, vol.82
, pp. 8247-8251
-
-
Pentchev, P.G.1
Comly, M.E.2
Kruth, H.S.3
-
2
-
-
0023850575
-
Type C Niemann-Pick disease: Lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol
-
Sokol J, Blanchette-Mackie J, Kruth HS et al. Type C Niemann-Pick disease: lysosomal accumulation and defective intracellular mobilization of low density lipoprotein cholesterol. J Biol Chem 1988; 263: 3411-3417.
-
(1988)
J Biol Chem
, vol.263
, pp. 3411-3417
-
-
Sokol, J.1
Blanchette-Mackie, J.2
Kruth, H.S.3
-
3
-
-
0001745899
-
Niemann-Pick disease types A and B: Acid sphingomyelinase deficiencies
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds). McGraw-Hill: New York
-
Schuchman EH, Desnick RJ. Niemann-Pick disease types A and B: acid sphingomyelinase deficiencies. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease, 7th edn. McGraw-Hill: New York, 1995, pp 2601-2624.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Edn.
, pp. 2601-2624
-
-
Schuchman, E.H.1
Desnick, R.J.2
-
4
-
-
0000815355
-
Niemann-Pick disease types C: A cellular cholesterol lipidosis
-
Scriver CR, Beaudet AL, Sly WS, Valle D (eds). McGraw-Hill: New York
-
Pentchev PG, Vanier MT, Suzuki K, Patterson MC. Niemann-Pick disease types C: a cellular cholesterol lipidosis. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds). The Metabolic and Molecular Bases of Inherited Disease, 7th edn. McGraw-Hill: New York, 1995, pp 2625-2639.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Edn.
, pp. 2625-2639
-
-
Pentchev, P.G.1
Vanier, M.T.2
Suzuki, K.3
Patterson, M.C.4
-
5
-
-
0029655528
-
Genetic heterogeneity in Niemann-Pick C disease: A study using somatic cell hybridization and linkage analysis
-
Vanier MT, Duthel S, Rodriguez-Hafrasse C et al. Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. Am J Hum Genet 1996; 58: 118-125.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 118-125
-
-
Vanier, M.T.1
Duthel, S.2
Rodriguez-Hafrasse, C.3
-
6
-
-
0030863352
-
Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis
-
Carstea ED, Morris JA, Coleman KG et al. Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 1997; 277: 228-231.
-
(1997)
Science
, vol.277
, pp. 228-231
-
-
Carstea, E.D.1
Morris, J.A.2
Coleman, K.G.3
-
7
-
-
0029741821
-
Niemann-Pick disease type C
-
Schiffmann Raphael. Niemann-Pick disease type C. JAMA 1996; 276: 561-564.
-
(1996)
JAMA
, vol.276
, pp. 561-564
-
-
Raphael, S.1
-
8
-
-
0027395364
-
The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C
-
Patterson MC, Fracp BS, Di Bisceglie AM et al. The effect of cholesterol-lowering agents on hepatic and plasma cholesterol in Niemann-Pick disease type C. Neurology 1993; 43: 61-64.
-
(1993)
Neurology
, vol.43
, pp. 61-64
-
-
Patterson, M.C.1
Fracp, B.S.2
Di Bisceglie, A.M.3
-
9
-
-
0021919863
-
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 et al. Effects of dimethylsulfoxide on sphingomyelinase in cultured human fibroblasts and correction of sphingomyelinase deficiency in fibroblasts from Niemann-Pick patients. Biochem Biophy Res Commun 1985; 126: 756-762.
-
(1985)
Biochem Biophy Res Commun
, vol.126
, pp. 756-762
-
-
Sakuragawa, N.1
Sato, M.2
Yoshida, Y.3
-
10
-
-
84995069602
-
Clinical improvement with DMSO treatment in a patient with Niemann-Pick disease (type C)
-
Sakuragawa N, Ohmura K, Suzuki K, Miyazato Y. Clinical improvement with DMSO treatment in a patient with Niemann-Pick disease (type C). Acta Paediatr Jpn 1988; 30: 509-516.
-
(1988)
Acta Paediatr Jpn
, vol.30
, pp. 509-516
-
-
Sakuragawa, N.1
Ohmura, K.2
Suzuki, K.3
Miyazato, Y.4
-
11
-
-
0024387621
-
Type C Niemann-Pick disease: Dimethyl sulfoxide moderates abnormal LDL-cholesterol processing in mutant fibroblasts
-
Blanchette Mackie EJ, Dwyer NK, Vanier MT et al. Type C Niemann-Pick disease: dimethyl sulfoxide moderates abnormal LDL-cholesterol processing in mutant fibroblasts. Biochim Biophys Acta 1989; 1006: 219-226.
-
(1989)
Biochim Biophys Acta
, vol.1006
, pp. 219-226
-
-
Blanchette Mackie, E.J.1
Dwyer, N.K.2
Vanier, M.T.3
-
13
-
-
0025214494
-
Allogeneic bone marrow-plus-liver transplantation in the C57BL/KsJ spm/spm mouse, an animal model of Niemann-Pick disease
-
Yashumizu R, Miyawaki S, Kikuya S et al. Allogeneic bone marrow-plus-liver transplantation in the C57BL/KsJ spm/spm mouse, an animal model of Niemann-Pick disease. Transplantation 1990; 49: 759-764.
-
(1990)
Transplantation
, vol.49
, pp. 759-764
-
-
Yashumizu, R.1
Miyawaki, S.2
Kikuya, S.3
-
14
-
-
0029910550
-
Transplantation of fetal liver cells corrects accumulation of lipids in tissues and prevents fatal neuropathy in cholesterol-storage disease BALB/c mice
-
Veyron P, Mutin M, Touraine JL. Transplantation of fetal liver cells corrects accumulation of lipids in tissues and prevents fatal neuropathy in cholesterol-storage disease BALB/c mice. Transplantation 1996; 62: 1039-1045.
-
(1996)
Transplantation
, vol.62
, pp. 1039-1045
-
-
Veyron, P.1
Mutin, M.2
Touraine, J.L.3
-
15
-
-
0022645214
-
Progression of neurovisceral storage disease with supranuclear ophthalmoplegia following orthotopic liver transplantation
-
Gartner JC, Bergman I, Malatack JJ et al. Progression of neurovisceral storage disease with supranuclear ophthalmoplegia following orthotopic liver transplantation. Pediatrics 1986; 77: 104-106.
-
(1986)
Pediatrics
, vol.77
, pp. 104-106
-
-
Gartner, J.C.1
Bergman, I.2
Malatack, J.J.3
-
16
-
-
0020396296
-
Ultrastructural study of biopsy specimens of rectal mucosa
-
Yamano T, Shimada M, Okada S et al. Ultrastructural study of biopsy specimens of rectal mucosa. Arch Pathol Lab Med 1982; 106: 673-677.
-
(1982)
Arch Pathol Lab Med
, vol.106
, pp. 673-677
-
-
Yamano, T.1
Shimada, M.2
Okada, S.3
-
17
-
-
0029114944
-
The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome
-
Krivit W, Lockman LA, Watkins PA et al. The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome. J Inher Metab Dis 1995; 18: 398-412.
-
(1995)
J Inher Metab Dis
, vol.18
, pp. 398-412
-
-
Krivit, W.1
Lockman, L.A.2
Watkins, P.A.3
-
18
-
-
0029845517
-
Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groups α and β stimulates LDL derived cholesterol esterification
-
Steinberg SJ, Mondai D, Fensotn AH. Co-cultivation of Niemann-Pick disease type C fibroblasts belonging to complementation groups α and β stimulates LDL derived cholesterol esterification. J Inher Metab Dis 1996; 19: 769-774.
-
(1996)
J Inher Metab Dis
, vol.19
, pp. 769-774
-
-
Steinberg, S.J.1
Mondai, D.2
Fensotn, A.H.3
|