-
1
-
-
0033693277
-
Cerebrotendinous xanthomatosis: The spectrum of imaging findings and the correlation with neuropathologic findings
-
Barkhof F, Verrips A, Wesseling P, et al. Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. Radiology 2000;217:869-76
-
(2000)
Radiology
, vol.217
, pp. 869-876
-
-
Barkhof, F.1
Verrips, A.2
Wesseling, P.3
-
2
-
-
0034048587
-
Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis
-
Verrips A, Hoefsloot LH, Steenbergen GC, et al. Clinical and molecular genetic characteristics of patients with cerebrotendinous xanthomatosis. Brain 2000;123:908-19
-
(2000)
Brain
, vol.123
, pp. 908-919
-
-
Verrips, A.1
Hoefsloot, L.H.2
Steenbergen, G.C.3
-
3
-
-
0141997295
-
Cerebrotendinous xanthomatosis: Clinical manifestations, diagnostic criteria, pathogenesis, and therapy
-
Federico A, Dotti MT. Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy. J Child Neurol 2003;18:633-38
-
(2003)
J Child Neurol
, vol.18
, pp. 633-638
-
-
Federico, A.1
Dotti, M.T.2
-
4
-
-
33745606740
-
Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene
-
DOI 10.1007/s10072-006-0618-7
-
Gallus GN, Dotti MT, Federico A. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. Neurol Sci 2006;27:143-49 (Pubitemid 43983256)
-
(2006)
Neurological Sciences
, vol.27
, Issue.2
, pp. 143-149
-
-
Gallus, G.N.1
Dotti, M.T.2
Federico, A.3
-
5
-
-
59449087114
-
Chronic diarrhea and juvenile cataracts: Think cerebrotendinous xanthomatosis and treat
-
Berginer VM, Gross B, Morad K, et al. Chronic diarrhea and juvenile cataracts: think cerebrotendinous xanthomatosis and treat. Pediatrics 2009;123:143-47
-
(2009)
Pediatrics
, vol.123
, pp. 143-147
-
-
Berginer, V.M.1
Gross, B.2
Morad, K.3
-
6
-
-
0035188015
-
Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis
-
De Stefano N, Dotti MT, Mortilla M, et al. Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis. Brain 2001;124:121-31
-
(2001)
Brain
, vol.124
, pp. 121-131
-
-
De Stefano, N.1
Dotti, M.T.2
Mortilla, M.3
-
7
-
-
0027375098
-
Estimation of metabolite concentrations from localized in vivo proton NMR spectra
-
Provencher SW. Estimation of metabolite concentrations from localized in vivo proton NMR spectra. Magn Reson Med 1993;30:672-79
-
(1993)
Magn Reson Med
, vol.30
, pp. 672-679
-
-
Provencher, S.W.1
-
8
-
-
50049085194
-
Cerebrotendinous xanthomatosis: Neuropathological findings
-
Pilo de la Fuente B, Ruiz I, Lopez de Munain A, et al. Cerebrotendinous xanthomatosis: neuropathological findings. J Neurol 2008;255:839-42
-
(2008)
J Neurol
, vol.255
, pp. 839-842
-
-
Pilo De La Fuente, B.1
Ruiz, I.2
Lopez De Munain, A.3
-
9
-
-
33444468727
-
-
Cambridge, UK: Cambridge University Press
-
Gillard JH, Waldman A, Barker P. Clinical MR neuroimaging: diffusion, perfusion, and spectroscopy. Cambridge, UK: Cambridge University Press; 2005:7-26
-
(2005)
Clinical MR Neuroimaging: Diffusion, Perfusion, and Spectroscopy
, pp. 7-26
-
-
Gillard, J.H.1
Waldman, A.2
Barker, P.3
-
10
-
-
2142640189
-
MR Imaging and Proton MR Spectroscopic Studies in Sjogren-Larsson Syndrome: Characterization of the Leukoencephalopathy
-
Willemsen MA, Van Der Graaf M, Van Der Knaap MS, et al. MR imaging and proton MR spectroscopic studies in Sjogren-Larsson syndrome: characterization of the leukoencephalopathy. AJNR Am J Neuroradiol 2004;25:649-57 (Pubitemid 38541950)
-
(2004)
American Journal of Neuroradiology
, vol.25
, Issue.4
, pp. 649-657
-
-
Willemsen, M.A.A.P.1
Van Der Graaf, M.2
Van Der Knaap, M.S.3
Heerschap, A.4
Van Domburg, P.H.M.F.5
Gabreels, F.J.M.6
Rotteveel, J.J.7
-
11
-
-
33745434064
-
Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy
-
Oostendorp M, Engelke UF, Willemsen MA, et al. Diagnosing inborn errors of lipid metabolism with proton nuclear magnetic resonance spectroscopy. Clin Chem 2006;52:1395-405
-
(2006)
Clin Chem
, vol.52
, pp. 1395-1405
-
-
Oostendorp, M.1
Engelke, U.F.2
Willemsen, M.A.3
|