-
1
-
-
0035089564
-
Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees
-
Lee MH, Hazard S, Carpten JD, Yi S, Cohen J, Gerhardt GT, Salen G, Patel SB. Fine-mapping, mutation analyses, and structural mapping of cerebrotendinous xanthomatosis in U.S. pedigrees. J Lipid Res. 2001;42:159-69.
-
(2001)
J Lipid Res
, vol.42
, pp. 159-169
-
-
Lee, M.H.1
Hazard, S.2
Carpten, J.D.3
Yi, S.4
Cohen, J.5
Gerhardt, G.T.6
Salen, G.7
Patel, S.B.8
-
2
-
-
33744804726
-
Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol
-
Scriver CR, Beaudet AL, editors. New York: McGraw-Hill
-
Bjorken I, Boberg KM, Leitersdoef E. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol. In: Scriver CR, Beaudet AL, editors. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill; 2001. p 2970-8.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease. 8th Ed.
, pp. 2970-2978
-
-
Bjorken, I.1
Boberg, K.M.2
Leitersdoef, E.3
-
3
-
-
0027376201
-
Magnetic resonance of the brain and Achilles tendon in cerebrotendinous xanthomatosis
-
Spanish
-
Pardo J, Prieto JM, Rodriguez JR, Vadillo J, Dapena MD, Noya M. [Magnetic resonance of the brain and Achilles tendon in cerebrotendinous xanthomatosis]. Neurologia. 1993;8:268-70. Spanish.
-
(1993)
Neurologia
, vol.8
, pp. 268-270
-
-
Pardo, J.1
Prieto, J.M.2
Rodriguez, J.R.3
Vadillo, J.4
Dapena, M.D.5
Noya, M.6
-
5
-
-
0028345558
-
Cerebrotendinous xanthomatosis: Molecular diagnosis enables presymptomatic detection of a treatable disease
-
Meiner V, Meiner Z, Reshef A, Bjorktiem I, Leitersdorf E. Cerebrotendinous xanthomatosis: molecular diagnosis enables presymptomatic detection of a treatable disease. Neurology. 1994;44:288-90.
-
(1994)
Neurology
, vol.44
, pp. 288-290
-
-
Meiner, V.1
Meiner, Z.2
Reshef, A.3
Bjorktiem, I.4
Leitersdorf, E.5
-
6
-
-
0027475911
-
Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis
-
Berginer VM, Shany S, Alkalay D, Berginer J, Dekel S, Salen G, Tint GS, Gazit D. Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis. Metabolism. 1993;42:69-74.
-
(1993)
Metabolism
, vol.42
, pp. 69-74
-
-
Berginer, V.M.1
Shany, S.2
Alkalay, D.3
Berginer, J.4
Dekel, S.5
Salen, G.6
Tint, G.S.7
Gazit, D.8
-
7
-
-
0030987109
-
Failure in the treatment of long-standing osteoporosis in cerebrotendinous xanthomatosis
-
Chang WN, Lui CC. Failure in the treatment of long-standing osteoporosis in cerebrotendinous xanthomatosis. J Formos Med Assoc. 1997;96:225-7.
-
(1997)
J Formos Med Assoc
, vol.96
, pp. 225-227
-
-
Chang, W.N.1
Lui, C.C.2
-
8
-
-
43949164987
-
Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis
-
Kuriyama M, Fujiyama J, Kubota R, Nakagawa M, Osame M. Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis. Metabolism. 1993;42:1497-8.
-
(1993)
Metabolism
, vol.42
, pp. 1497-1498
-
-
Kuriyama, M.1
Fujiyama, J.2
Kubota, R.3
Nakagawa, M.4
Osame, M.5
-
9
-
-
0018382698
-
Peripheral neuropathy in cerebrotendinous xanthomatosis
-
Kuritzky A, Berginer VM, Korczyn AD. Peripheral neuropathy in cerebrotendinous xanthomatosis. Neurology. 1979;29:880-1.
-
(1979)
Neurology
, vol.29
, pp. 880-881
-
-
Kuritzky, A.1
Berginer, V.M.2
Korczyn, A.D.3
-
10
-
-
0025891185
-
Cerebrotendinous xanthomatosis: Clinical and biochemical evaluation of eight patients and review of the literature
-
Kuriyama M, Fujiyama J, Yoshidome H, Takenaga S, Matsumuro K, Kasama T, Fukuda K, Kuramoto T, Hoshita T, Seyama Y, Okatu Y, Osame M. Cerebrotendinous xanthomatosis: clinical and biochemical evaluation of eight patients and review of the literature. J Neural Sci. 1991;102:225-32.
-
(1991)
J Neural Sci
, vol.102
, pp. 225-232
-
-
Kuriyama, M.1
Fujiyama, J.2
Yoshidome, H.3
Takenaga, S.4
Matsumuro, K.5
Kasama, T.6
Fukuda, K.7
Kuramoto, T.8
Hoshita, T.9
Seyama, Y.10
Okatu, Y.11
Osame, M.12
-
12
-
-
0028784759
-
Ocular and systemic manifestations of cerebrotendinous xanthomatosis
-
Cruysberg JR, Wevers RA, van Engelen BG, Pinckers A, van Spreeken A, Tolboom JJ. Ocular and systemic manifestations of cerebrotendinous xanthomatosis. Am J Ophthalmol. 1995;120:597-604.
-
(1995)
Am J Ophthalmol
, vol.120
, pp. 597-604
-
-
Cruysberg, J.R.1
Wevers, R.A.2
Van Engelen, B.G.3
Pinckers, A.4
Van Spreeken, A.5
Tolboom, J.J.6
-
13
-
-
0022632933
-
Tendon xanthomas associated with cholestanolosis and hyperapobetalipoproteinemia
-
Lussier-Cacan S, Cantin M, Roy CC, Sniderman AD, Nestruck AC, Davignon J. Tendon xanthomas associated with cholestanolosis and hyperapobetalipoproteinemia. Clin Invest Med. 1986;9:94-9.
-
(1986)
Clin Invest Med
, vol.9
, pp. 94-99
-
-
Lussier-Cacan, S.1
Cantin, M.2
Roy, C.C.3
Sniderman, A.D.4
Nestruck, A.C.5
Davignon, J.6
-
14
-
-
84943985264
-
Capillary gas chromatography of urine samples in diagnosing cerebrotendinous xanthomatosis
-
Bouwes Bavinck JN, Vermeer BJ, Gevers Leuven JA, Koopman BJ, Wolthers BG. Capillary gas chromatography of urine samples in diagnosing cerebrotendinous xanthomatosis. Arch Dermatol. 1986;122:1269-72.
-
(1986)
Arch Dermatol
, vol.122
, pp. 1269-1272
-
-
Bouwes Bavinck, J.N.1
Vermeer, B.J.2
Gevers Leuven, J.A.3
Koopman, B.J.4
Wolthers, B.G.5
-
15
-
-
0020586748
-
Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography
-
Wolthers BG, Volmer M, van der Molen J, Koopman BJ, de Jager AE, Waterreus RJ. Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography. Clin Chim Acta. 1983;131:53-65.
-
(1983)
Clin Chim Acta
, vol.131
, pp. 53-65
-
-
Wolthers, B.G.1
Volmer, M.2
Van Der Molen, J.3
Koopman, B.J.4
De Jager, A.E.5
Waterreus, R.J.6
-
16
-
-
0025895604
-
Combined treatment with chenodeoxycholic acid and pravastatin improves plasma cholestanol levels associated with marked regression of tendon xanthomas in cerebrotendinous xanthomatosis
-
Nakamura T, Matsuzawa Y, Takemura K, Kubo M, Miki H, Tarui S. Combined treatment with chenodeoxycholic acid and pravastatin improves plasma cholestanol levels associated with marked regression of tendon xanthomas in cerebrotendinous xanthomatosis. Metabolism. 1991;40:741-6.
-
(1991)
Metabolism
, vol.40
, pp. 741-746
-
-
Nakamura, T.1
Matsuzawa, Y.2
Takemura, K.3
Kubo, M.4
Miki, H.5
Tarui, S.6
-
17
-
-
0028112040
-
Treatment of cerebrotendinous xanthomatosis: Effects of chenodeoxycholic acid, pravastatin, and combined use
-
Kuriyama M, Tokimura Y, Fujiyama J, Utatsu Y, Osame M. Treatment of cerebrotendinous xanthomatosis: effects of chenodeoxycholic acid, pravastatin, and combined use. J Neurol Sci. 1994;125:22-8.
-
(1994)
J Neurol Sci
, vol.125
, pp. 22-28
-
-
Kuriyama, M.1
Tokimura, Y.2
Fujiyama, J.3
Utatsu, Y.4
Osame, M.5
-
18
-
-
0030023244
-
Cerebrotendinous xanthomatosis: A family study of sterol 27-hydroxylase mutations and pharmacotherapy
-
Watts GF, Mitchell WD, Bending JJ, Reshef A, Leitersdorf E. Cerebrotendinous xanthomatosis: a family study of sterol 27-hydroxylase mutations and pharmacotherapy. QJM. 1996;89:55-63.
-
(1996)
QJM
, vol.89
, pp. 55-63
-
-
Watts, G.F.1
Mitchell, W.D.2
Bending, J.J.3
Reshef, A.4
Leitersdorf, E.5
-
19
-
-
0025782611
-
Cerebrotendinous xanthomatosis: Treatments with simvastatin, lovastatin, and chenodeoxycholic acid in 3 siblings
-
Peynet J, Laurent A, De Liege P, Lecoz P, Gambert P, Legrand A, Mikol J, Warnet A. Cerebrotendinous xanthomatosis: treatments with simvastatin, lovastatin, and chenodeoxycholic acid in 3 siblings. Neurology. 1991;41:434-6.
-
(1991)
Neurology
, vol.41
, pp. 434-436
-
-
Peynet, J.1
Laurent, A.2
De Liege, P.3
Lecoz, P.4
Gambert, P.5
Legrand, A.6
Mikol, J.7
Warnet, A.8
-
20
-
-
0023229326
-
Cerebrotendinous xanthomatosis (CTX): A clinical survey of the patient population in the Netherlands
-
Waterreus RJ, Koopman BJ, Wolthers BG, Oosterhuis HJ. Cerebrotendinous xanthomatosis (CTX): a clinical survey of the patient population in The Netherlands. Clin Neurol Naurosurg. 1987;89:169-75.
-
(1987)
Clin Neurol Naurosurg
, vol.89
, pp. 169-175
-
-
Waterreus, R.J.1
Koopman, B.J.2
Wolthers, B.G.3
Oosterhuis, H.J.4
|