-
1
-
-
0000831301
-
Niemann-Pick disease type C: A lipid trafficking disorder
-
Scriver CT, Beaudet AL, Sly WS, Valle D, editors, New York: McGraw-Hill;
-
Patterson MC, Vanier MT, Suzuki K, et al. Niemann-Pick disease type C: a lipid trafficking disorder. In: Scriver CT, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill; 2001. p 3611-3633.
-
(2001)
The metabolic and molecular bases of inherited disease
, pp. 3611-3633
-
-
Patterson, M.C.1
Vanier, M.T.2
Suzuki, K.3
-
2
-
-
0141886877
-
Niemann-Pick disease type C
-
Vanier MT, Millat G. Niemann-Pick disease type C. Clin Genet 2003;64:269-281.
-
(2003)
Clin Genet
, vol.64
, pp. 269-281
-
-
Vanier, M.T.1
Millat, G.2
-
3
-
-
33751098822
-
Niemann-Pick C disease in Spain: Clinical spectrum and development of a disability scale
-
Iturriaga C, Pineda M, Fernandez-Valero EM, Vanier MT, Coll MJ. Niemann-Pick C disease in Spain: clinical spectrum and development of a disability scale. J Neurol Sci 2006;249:1-6.
-
(2006)
J Neurol Sci
, vol.249
, pp. 1-6
-
-
Iturriaga, C.1
Pineda, M.2
Fernandez-Valero, E.M.3
Vanier, M.T.4
Coll, M.J.5
-
4
-
-
33846412228
-
The natural history of Niemann-Pick disease type C in the UK
-
Imrie J, Dasgupta S, Besley GTN, et al. The natural history of Niemann-Pick disease type C in the UK. J Inherit Metab Dis 2007;30:51-59.
-
(2007)
J Inherit Metab Dis
, vol.30
, pp. 51-59
-
-
Imrie, J.1
Dasgupta, S.2
Besley, G.T.N.3
-
5
-
-
3242741280
-
Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C
-
Lachmann RH, te Vruchte D, Lloyd-Evans E, et al. Treatment with miglustat reverses the lipid-trafficking defect in Niemann-Pick disease type C. Neurobiol Dis 2004;16:654-658.
-
(2004)
Neurobiol Dis
, vol.16
, pp. 654-658
-
-
Lachmann, R.H.1
te Vruchte, D.2
Lloyd-Evans, E.3
-
6
-
-
39549114511
-
Oral miglustat in adult and pediatric patients with Niemann-Pick type C (NPC) disease: Rationale, methodology, and interim analyses of a clinical study
-
Presented at the
-
Patterson MC, Vecchio D, Prady H, et al. Oral miglustat in adult and pediatric patients with Niemann-Pick type C (NPC) disease: rationale, methodology, and interim analyses of a clinical study. Presented at the annual meeting of the American Society of Human Genetics, 2005.
-
(2005)
annual meeting of the American Society of Human Genetics
-
-
Patterson, M.C.1
Vecchio, D.2
Prady, H.3
-
7
-
-
0034728914
-
Novel treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis
-
Cox T, Lachmann R, Hollak C, et al. Novel treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis. Lancet 2000;355:1481-1485.
-
(2000)
Lancet
, vol.355
, pp. 1481-1485
-
-
Cox, T.1
Lachmann, R.2
Hollak, C.3
-
8
-
-
0035928841
-
Critical role for glycosphingolipids in Niemann-Pick disease type C
-
Zervas M, Somers KL, Thrall AM, Walkley SU. Critical role for glycosphingolipids in Niemann-Pick disease type C. Curr Biol 2001;11:1283-1287.
-
(2001)
Curr Biol
, vol.11
, pp. 1283-1287
-
-
Zervas, M.1
Somers, K.L.2
Thrall, A.M.3
Walkley, S.U.4
-
9
-
-
33745112205
-
Substrate reduction therapy of glycosphingolipid storage disorders
-
Aerts JMFG, Hollak CEM, Boot RG, Groener JEM, Maas M. Substrate reduction therapy of glycosphingolipid storage disorders. J Inherit Metab Dis 2006;29:449-456.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 449-456
-
-
Aerts, J.M.F.G.1
Hollak, C.E.M.2
Boot, R.G.3
Groener, J.E.M.4
Maas, M.5
-
10
-
-
0002441570
-
Clinical gait analysis: Current methods and future directions
-
Harris G, Smith P, editors, Piscataway, NJ: IEEE Press;
-
Davis R, DeLuca P. Clinical gait analysis: current methods and future directions. In: Harris G, Smith P, editors. Human motion analysis: current applications and future directions. Piscataway, NJ: IEEE Press; 1996 p 17-42.
-
(1996)
Human motion analysis: Current applications and future directions
, pp. 17-42
-
-
Davis, R.1
DeLuca, P.2
-
11
-
-
0026040909
-
Strategies for the assessment of pediatric gait in the clinical setting
-
Rose SA, Õunpuu S, DeLuca PA. Strategies for the assessment of pediatric gait in the clinical setting. Phys Ther 1991;71:961-980.
-
(1991)
Phys Ther
, vol.71
, pp. 961-980
-
-
Rose, S.A.1
Õunpuu, S.2
DeLuca, P.A.3
-
12
-
-
0025940083
-
Three dimensional lower extremity joint kinetics in normal pediatric gait
-
Õunpuu S, Gage JR, Davis RB. Three dimensional lower extremity joint kinetics in normal pediatric gait. J Pediatr Orthop 1991;11:341-349.
-
(1991)
J Pediatr Orthop
, vol.11
, pp. 341-349
-
-
Õunpuu, S.1
Gage, J.R.2
Davis, R.B.3
-
14
-
-
39549104583
-
-
Newborg, J. BDI-2 Scoring Pro ™ [Computer Software, Battelle developmental inventory, 2nd ed. Itasca, IL: Riverside Publishing; 2005
-
Newborg, J. BDI-2 Scoring Pro ™ [Computer Software]. Battelle developmental inventory, 2nd ed. Itasca, IL: Riverside Publishing; 2005.
-
-
-
-
16
-
-
22144436233
-
Niemann-Pick type C disease in two affected sisters: Ocular motor recordings and brain-stem neuropathology
-
Solomon D, Winkleman AC, Zee DS, Gray L, Buttner-Ennever J. Niemann-Pick type C disease in two affected sisters: ocular motor recordings and brain-stem neuropathology. Ann NY Acad Sci 2005;1039:436-445.
-
(2005)
Ann NY Acad Sci
, vol.1039
, pp. 436-445
-
-
Solomon, D.1
Winkleman, A.C.2
Zee, D.S.3
Gray, L.4
Buttner-Ennever, J.5
-
17
-
-
34047134621
-
Kinematic analysis of motor dysfunction in Niemann-Pick type C
-
Floyd AG, Yu QP, Piboolnurak P, Wraith E, Patterson MC, Pullman SL. Kinematic analysis of motor dysfunction in Niemann-Pick type C. Clin Neurophysiol 2007;118:1010-1018.
-
(2007)
Clin Neurophysiol
, vol.118
, pp. 1010-1018
-
-
Floyd, A.G.1
Yu, Q.P.2
Piboolnurak, P.3
Wraith, E.4
Patterson, M.C.5
Pullman, S.L.6
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