-
2
-
-
0030863352
-
Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis
-
Carstea ED, Morris JA, Coleman KG, 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
-
3
-
-
0025169032
-
A new peroxisomal disorder: Di- and tri-hydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency
-
Christensen E, Van Eldere J, Brandt NJ, Schutgens RBH, Wanders RJA, Eyssen HJ (1990) A new peroxisomal disorder: di- and tri-hydroxycholestanaemia due to a presumed trihydroxycholestanoyl-CoA oxidase deficiency. J Inher Metab Dis 13: 363-366.
-
(1990)
J Inher Metab Dis
, vol.13
, pp. 363-366
-
-
Christensen, E.1
Van Eldere, J.2
Brandt, N.J.3
Schutgens, R.B.H.4
Wanders, R.J.A.5
Eyssen, H.J.6
-
4
-
-
0025875876
-
Inborn errors of bile acid metabolism
-
Clayton PT (1991) Inborn errors of bile acid metabolism. J Inher Metab Dis 14: 478-496.
-
(1991)
J Inher Metab Dis
, vol.14
, pp. 478-496
-
-
Clayton, P.T.1
-
6
-
-
0000815355
-
Niemann-Pick disease type C: A cellular cholesterol lipidosis
-
Scriver CR, Beaudet AL, Sly WS, Valle D, eds. New York: McGraw-Hill
-
Pentchev PG, Vanier MT, Suzuki K, Patterson MC (1995) Niemann-Pick disease type 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. New York: McGraw-Hill, 2625-2640.
-
(1995)
The Metabolic and Molecular Bases of Inherited Disease, 7th Edn.
, pp. 2625-2640
-
-
Pentchev, P.G.1
Vanier, M.T.2
Suzuki, K.3
Patterson, M.C.4
-
7
-
-
0025169033
-
Di and tri-hydroxycholestanoic acidaemia with hepatic failure
-
Pryzrembel H, Wanders RJA, van Roermund CWT, Schutgens RBH, Mannaerts GP, Casteels M (1990) Di and tri-hydroxycholestanoic acidaemia with hepatic failure. J Inher Metab Dis 13: 371-374.
-
(1990)
J Inher Metab Dis
, vol.13
, pp. 371-374
-
-
Pryzrembel, H.1
Wanders, R.J.A.2
Van Roermund, C.W.T.3
Schutgens, R.B.H.4
Mannaerts, G.P.5
Casteels, M.6
-
8
-
-
0028123083
-
Sterol carrier protein X is peroxisomal 3-oxoacyl coenzyme a thiolase with intrinsic sterol carrier and lipid transfer activity
-
Seedorf U, Brysch P, Engel T, Schrage K, Assmann G (1994) Sterol carrier protein X is peroxisomal 3-oxoacyl coenzyme A thiolase with intrinsic sterol carrier and lipid transfer activity. J Biol Chem 269: 21277-21283.
-
(1994)
J Biol Chem
, vol.269
, pp. 21277-21283
-
-
Seedorf, U.1
Brysch, P.2
Engel, T.3
Schrage, K.4
Assmann, G.5
-
9
-
-
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
-
10
-
-
0029655528
-
Genetic heterogeneity in Niemann-Pick C disease: A study using somatic cell hybridisation and linkage analysis
-
Vanier MT, Duthel S, Rodriguez-Lafrasse C, Pentchev P, Carstea ED (1996) Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridisation and linkage analysis. Am J Hum Genet 58: 118-125.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 118-125
-
-
Vanier, M.T.1
Duthel, S.2
Rodriguez-Lafrasse, C.3
Pentchev, P.4
Carstea, E.D.5
-
11
-
-
0025777970
-
Type C Niemann-Pick disease: Spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing
-
Vanier MT, Rodriguez-Lafrasse C, Rousson R, et al (1991) Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta 1096: 328-337.
-
(1991)
Biochim Biophys Acta
, vol.1096
, pp. 328-337
-
-
Vanier, M.T.1
Rodriguez-Lafrasse, C.2
Rousson, R.3
-
12
-
-
0000842144
-
Niemman-Pick diseases
-
Moser HW, ed. chap. 66: Neurodystrophies and Neurolipidoses. Amsterdam: Elsevier Science
-
Vanier MT, Suzuki K (1996) Niemman-Pick diseases. In Moser HW, ed. Handbook of Clinical Neurology, vol. 22, chap. 66: Neurodystrophies and Neurolipidoses. Amsterdam: Elsevier Science, 133-162.
-
(1996)
Handbook of Clinical Neurology
, vol.22
, pp. 133-162
-
-
Vanier, M.T.1
Suzuki, K.2
-
13
-
-
6844231807
-
The 58kDa peroxisomal sterol-carrier protein/thiolase SCPx is the main thiolase involved in branched-chain fatty acid oxidation: Implications for the disorders of peroxisomal fatty acid oxidation
-
Abstract
-
Wanders RJA, Denis S, van Grunsven I, Wouters F, Wirtz KWA, Seedorf U (1997) The 58kDa peroxisomal sterol-carrier protein/thiolase SCPx is the main thiolase involved in branched-chain fatty acid oxidation: implications for the disorders of peroxisomal fatty acid oxidation. J Inher Metab Dis 20 (supplement 1): 72 (Abstract).
-
(1997)
J Inher Metab Dis
, vol.20
, Issue.1 SUPPL.
, pp. 72
-
-
Wanders, R.J.A.1
Denis, S.2
Van Grunsven, I.3
Wouters, F.4
Wirtz, K.W.A.5
Seedorf, U.6
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