-
1
-
-
84905010079
-
Niemann-Pick disease type C Review
-
Vanier M.T. Niemann-Pick disease type C Review. Orphanet J Rare Dis 2010, 5:1-18.
-
(2010)
Orphanet J Rare Dis
, vol.5
, pp. 1-18
-
-
Vanier, M.T.1
-
2
-
-
77953721860
-
Defective cholesterol trafficking in Niemann-Pick C-deficient cells
-
Peake K.B., Vance J.E. Defective cholesterol trafficking in Niemann-Pick C-deficient cells. FEBS Lett 2010, 584:2731-2739.
-
(2010)
FEBS Lett
, vol.584
, pp. 2731-2739
-
-
Peake, K.B.1
Vance, J.E.2
-
3
-
-
55749101385
-
NPC1/NPC2 function as a tag team duo to mobilize cholesterol
-
Subramanian K., Balch W.E. NPC1/NPC2 function as a tag team duo to mobilize cholesterol. Proc Natl Acad Sci U S A 2008, 105:15223-15224.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 15223-15224
-
-
Subramanian, K.1
Balch, W.E.2
-
4
-
-
28444479505
-
Role of cholesterol and lipid organization in disease
-
Maxfield F.R., Tabas I. Role of cholesterol and lipid organization in disease. Nature 2005, 438:612-621.
-
(2005)
Nature
, vol.438
, pp. 612-621
-
-
Maxfield, F.R.1
Tabas, I.2
-
5
-
-
79960908110
-
Oxysterols direct B-cell migration through EBI2
-
Liu C., Yang X.V., Wu J., Kuei C., Mani N.S., Zhang L., et al. Oxysterols direct B-cell migration through EBI2. Nature 2011, 475:519-523.
-
(2011)
Nature
, vol.475
, pp. 519-523
-
-
Liu, C.1
Yang, X.V.2
Wu, J.3
Kuei, C.4
Mani, N.S.5
Zhang, L.6
-
6
-
-
55749083068
-
NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes
-
Infante R.E., Wang M.L., Radhakrishnan A., Kwon H.J., Brown M.S., Goldstein J.L. NPC2 facilitates bidirectional transfer of cholesterol between NPC1 and lipid bilayers, a step in cholesterol egress from lysosomes. Proc Natl Acad Sci U S A 2008, 105:15287-15292.
-
(2008)
Proc Natl Acad Sci U S A
, vol.105
, pp. 15287-15292
-
-
Infante, R.E.1
Wang, M.L.2
Radhakrishnan, A.3
Kwon, H.J.4
Brown, M.S.5
Goldstein, J.L.6
-
7
-
-
0036068897
-
Niemann-Pick disease type C in neonatal cholestasis at a North American center
-
Yerushalmi B., Sokol R.J., Narkewicz M.R., Smith D., Ashmead J.W., Wenger D.A. Niemann-Pick disease type C in neonatal cholestasis at a North American center. J Pediatr Gastroenterol Nutr 2002, 35:44-50.
-
(2002)
J Pediatr Gastroenterol Nutr
, vol.35
, pp. 44-50
-
-
Yerushalmi, B.1
Sokol, R.J.2
Narkewicz, M.R.3
Smith, D.4
Ashmead, J.W.5
Wenger, D.A.6
-
8
-
-
84929950022
-
Early identification of type C2 Niemann-Pick disease by urinary bile acid profile determination in a newborn: Potential of tandem mass spectrometry for the differential diagnosis of neonatal cholestasis
-
Curia G., Cananzi M., Giordano G., Burlina A., Giordano L., Bembi B., et al. Early identification of type C2 Niemann-Pick disease by urinary bile acid profile determination in a newborn: Potential of tandem mass spectrometry for the differential diagnosis of neonatal cholestasis. Dig Liver Dis 2013, 45:e271.
-
(2013)
Dig Liver Dis
, vol.45
, pp. e271
-
-
Curia, G.1
Cananzi, M.2
Giordano, G.3
Burlina, A.4
Giordano, L.5
Bembi, B.6
-
9
-
-
33748714980
-
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C
-
Ries M., Schaefer E., Lührs T., Mani L., Kuhn J., Vanier M.T., et al. Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C. J Inherit Metab Dis 2006, 29:647-652.
-
(2006)
J Inherit Metab Dis
, vol.29
, pp. 647-652
-
-
Ries, M.1
Schaefer, E.2
Lührs, T.3
Mani, L.4
Kuhn, J.5
Vanier, M.T.6
-
10
-
-
77649338296
-
Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series
-
Pineda M., Perez-Poyato M.S., O'Callaghan M., Vilaseca M.A., Pocovi M., Domingo R., et al. Clinical experience with miglustat therapy in pediatric patients with Niemann-Pick disease type C: a case series. Mol Genet Metab 2010, 99:358-366.
-
(2010)
Mol Genet Metab
, vol.99
, pp. 358-366
-
-
Pineda, M.1
Perez-Poyato, M.S.2
O'Callaghan, M.3
Vilaseca, M.A.4
Pocovi, M.5
Domingo, R.6
-
11
-
-
0032475959
-
The Human chitotriosidase gene: nature of inherited enzyme deficiency
-
Boot R.G., Renkema G.H., Verhoek M., Strijland A., Bliek J., de Meulemeester T.M., et al. The Human chitotriosidase gene: nature of inherited enzyme deficiency. J Biol Chem 1998, 273:25680-25685.
-
(1998)
J Biol Chem
, vol.273
, pp. 25680-25685
-
-
Boot, R.G.1
Renkema, G.H.2
Verhoek, M.3
Strijland, A.4
Bliek, J.5
de Meulemeester, T.M.6
-
12
-
-
0029565165
-
Elevated plasma chitotriosidase activity in various lysosomal storage disorders
-
Guo Y., He W., Boer A.M., Wevers R.A., de Bruijn A.M., Groener J.E., et al. Elevated plasma chitotriosidase activity in various lysosomal storage disorders. J Inherit Metab Dis 1995, 18:717-722.
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 717-722
-
-
Guo, Y.1
He, W.2
Boer, A.M.3
Wevers, R.A.4
de Bruijn, A.M.5
Groener, J.E.6
-
13
-
-
0025777970
-
Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing
-
Vanier M.T., Rodriguez-Lafrasse C., Rousson R., Gazzah N., Juge M.C., Pentchev P.G., et al. Type C Niemann-Pick disease: spectrum of phenotypic variation in disruption of intracellular LDL-derived cholesterol processing. Biochim Biophys Acta 1991, 1096:328-337.
-
(1991)
Biochim Biophys Acta
, vol.1096
, pp. 328-337
-
-
Vanier, M.T.1
Rodriguez-Lafrasse, C.2
Rousson, R.3
Gazzah, N.4
Juge, M.C.5
Pentchev, P.G.6
-
14
-
-
0031983861
-
Recent advances in elucidating Niemann-Pick C disease
-
Vanier M.T., Suzuki K. Recent advances in elucidating Niemann-Pick C disease. Brain Pathol 1998, 8:163-174.
-
(1998)
Brain Pathol
, vol.8
, pp. 163-174
-
-
Vanier, M.T.1
Suzuki, K.2
-
15
-
-
0025801545
-
Type C Niemann Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol
-
Argoff C.E., Comly M.E., Blanchette-Mackie J., Kruth H.S., Pye H.T., Goldin E., et al. Type C Niemann Pick disease: cellular uncoupling of cholesterol homeostasis is linked to the severity of disruption in the intracellular transport of exogenously derived cholesterol. Biochim Biophys Acta 1991, 1096:319-327.
-
(1991)
Biochim Biophys Acta
, vol.1096
, pp. 319-327
-
-
Argoff, C.E.1
Comly, M.E.2
Blanchette-Mackie, J.3
Kruth, H.S.4
Pye, H.T.5
Goldin, E.6
-
16
-
-
0031044042
-
Phenotypic and genetic heterogeneity in Niemann-Pick diseae type C: current knowledge and practical implications
-
Vanier M.T. Phenotypic and genetic heterogeneity in Niemann-Pick diseae type C: current knowledge and practical implications. Wien Klin Wochenschr 1997, 109:68-73.
-
(1997)
Wien Klin Wochenschr
, vol.109
, pp. 68-73
-
-
Vanier, M.T.1
-
17
-
-
67849098806
-
Recommendations on the diagnosis and management of Niemann-Pick disease type C
-
Wraith J.E., Baumgartner M.R., Bembi B., Covanis A., Levade T., Mengel E., et al. Recommendations on the diagnosis and management of Niemann-Pick disease type C. Mol Genet Metab 2009, 98:152-165.
-
(2009)
Mol Genet Metab
, vol.98
, pp. 152-165
-
-
Wraith, J.E.1
Baumgartner, M.R.2
Bembi, B.3
Covanis, A.4
Levade, T.5
Mengel, E.6
-
18
-
-
26244438721
-
Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families
-
Millat G., Baïlo N., Molinero S., Rodriguez C., Chikh K., Vanier M.T. Niemann-Pick C disease: use of denaturing high performance liquid chromatography for the detection of NPC1 and NPC2 genetic variations and impact on management of patients and families. Mol Genet Metab 2005, 86:220-232.
-
(2005)
Mol Genet Metab
, vol.86
, pp. 220-232
-
-
Millat, G.1
Baïlo, N.2
Molinero, S.3
Rodriguez, C.4
Chikh, K.5
Vanier, M.T.6
-
19
-
-
0034987798
-
NiemannPick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop
-
Millat G., Marçais C., Tomasetto C., Chikh K., Fensom A.H., Harzer K., et al. NiemannPick C1 disease: correlations between NPC1 mutations, levels of NPC1 protein, and phenotypes emphasize the functional significance of the putative sterol-sensing domain and of the cysteine-rich luminal loop. Am J Hum Genet 2001, 68:1373-1385.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 1373-1385
-
-
Millat, G.1
Marçais, C.2
Tomasetto, C.3
Chikh, K.4
Fensom, A.H.5
Harzer, K.6
-
20
-
-
0141753992
-
Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1
-
Park W.D., O'Brien J.F., Lundquist P.A., Kraft D.L., Vockley C.W., Karnes P.S., et al. Identification of 58 novel mutations in Niemann-Pick disease type C: correlation with biochemical phenotype and importance of PTC1-like domains in NPC1. Hum Mutat 2003, 22:313-325.
-
(2003)
Hum Mutat
, vol.22
, pp. 313-325
-
-
Park, W.D.1
O'Brien, J.F.2
Lundquist, P.A.3
Kraft, D.L.4
Vockley, C.W.5
Karnes, P.S.6
-
21
-
-
78149342830
-
Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease
-
Porter F.D., Scherrer D.E., Lanier M.H., Langmade S.J., Molugu V., Gale S.E., et al. Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease. Sci Transl Med 2010, 2:1-12.
-
(2010)
Sci Transl Med
, vol.2
, pp. 1-12
-
-
Porter, F.D.1
Scherrer, D.E.2
Lanier, M.H.3
Langmade, S.J.4
Molugu, V.5
Gale, S.E.6
-
22
-
-
79959232858
-
A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma
-
Jiang X., Sidhu R., Porter F.D., Yanjanin N.M., Speak A.O., te Vruchte D.T., et al. A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma. J Lipid Res 2011, 52:1435-1445.
-
(2011)
J Lipid Res
, vol.52
, pp. 1435-1445
-
-
Jiang, X.1
Sidhu, R.2
Porter, F.D.3
Yanjanin, N.M.4
Speak, A.O.5
te Vruchte, D.T.6
-
23
-
-
84893352301
-
Determination of 7-Ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease
-
Lin N., Zhang H., Qiu W., Ye J., Han L., Wang Y., et al. Determination of 7-Ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease. J Lipid Res 2014, 55:338-343.
-
(2014)
J Lipid Res
, vol.55
, pp. 338-343
-
-
Lin, N.1
Zhang, H.2
Qiu, W.3
Ye, J.4
Han, L.5
Wang, Y.6
-
24
-
-
0027976761
-
The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol
-
Pentchev P.G., Brady R.O., Joan E., Vanier M.T., Carstea E.D., Parker C.C., et al. The Niemann-Pick C lesion and its relationship to the intracellular distribution and utilization of LDL cholesterol. Biochim Biophys Acta 1994, 1225:235-243.
-
(1994)
Biochim Biophys Acta
, vol.1225
, pp. 235-243
-
-
Pentchev, P.G.1
Brady, R.O.2
Joan, E.3
Vanier, M.T.4
Carstea, E.D.5
Parker, C.C.6
-
25
-
-
38149069055
-
Purified NPC1 protein. I. Binding of cholesterol and oxysterols to a 1278-amino acid membrane protein
-
Infante R.E., Abi-Mosleh L., Radhakrishnan A., Dale J.D., Brown M.S., Goldstein J.L. Purified NPC1 protein. I. Binding of cholesterol and oxysterols to a 1278-amino acid membrane protein. J Biol Chem 2008, 283:1052-1063.
-
(2008)
J Biol Chem
, vol.283
, pp. 1052-1063
-
-
Infante, R.E.1
Abi-Mosleh, L.2
Radhakrishnan, A.3
Dale, J.D.4
Brown, M.S.5
Goldstein, J.L.6
-
26
-
-
84874482064
-
Oxidative stress: a pathogenic mechanism for Niemann-Pick type C disease
-
Vázquez M.C., Balboa E., Alvarez A.R., Zanlungo S. Oxidative stress: a pathogenic mechanism for Niemann-Pick type C disease. Oxid Med Cell Longev 2012, 2012:1-11.
-
(2012)
Oxid Med Cell Longev
, vol.2012
, pp. 1-11
-
-
Vázquez, M.C.1
Balboa, E.2
Alvarez, A.R.3
Zanlungo, S.4
-
27
-
-
84898795462
-
Preanalytical standardization for reactive oxygen species derived oxysterol analysis in human plasma by liquid chromatography-tandem mass spectrometry
-
Helmschrodt C., Becker S., Thiery J., Ceglarek U. Preanalytical standardization for reactive oxygen species derived oxysterol analysis in human plasma by liquid chromatography-tandem mass spectrometry. Biochem Biophys Res Commun 2013, 446:726-730.
-
(2013)
Biochem Biophys Res Commun
, vol.446
, pp. 726-730
-
-
Helmschrodt, C.1
Becker, S.2
Thiery, J.3
Ceglarek, U.4
-
28
-
-
84985520823
-
Simple method for the esterification of carboxylic acids
-
Neises B., Steglich W. Simple method for the esterification of carboxylic acids. Angew Chem Int Ed Engl 1978, 17:522-524.
-
(1978)
Angew Chem Int Ed Engl
, vol.17
, pp. 522-524
-
-
Neises, B.1
Steglich, W.2
-
29
-
-
0035060286
-
Analysis of alcohols, as dimethylglycine esters, by electrospray ionization tandem mass spectrometry
-
Johnson W. Analysis of alcohols, as dimethylglycine esters, by electrospray ionization tandem mass spectrometry. J Mass Spectrom 2001, 36:277-283.
-
(2001)
J Mass Spectrom
, vol.36
, pp. 277-283
-
-
Johnson, W.1
-
30
-
-
84929958353
-
Nachweis-, Bestimmungs-und Erfassungsgrenze
-
Wiley-VCH, Weinheim, S. Kromidas (Ed.)
-
Kromidas S. Nachweis-, Bestimmungs-und Erfassungsgrenze. Validierung in der Analytik 2011, 193-200. Wiley-VCH, Weinheim. 2nd ed. S. Kromidas (Ed.).
-
(2011)
Validierung in der Analytik
, pp. 193-200
-
-
Kromidas, S.1
-
31
-
-
0020750980
-
Percentage points for a generalized ESD many-outlier procedure
-
Rosner B. Percentage points for a generalized ESD many-outlier procedure. Technometrics 1983, 25:165-172.
-
(1983)
Technometrics
, vol.25
, pp. 165-172
-
-
Rosner, B.1
-
32
-
-
33846228374
-
Characterization of oxysterols by electrospray ionization tandem mass spectrometry after one-step derivatization with dimethylglycine
-
Jiang X., Ory D.S., Han X. Characterization of oxysterols by electrospray ionization tandem mass spectrometry after one-step derivatization with dimethylglycine. Rapid Commun Mass Spectrom 2007, 21:141-152.
-
(2007)
Rapid Commun Mass Spectrom
, vol.21
, pp. 141-152
-
-
Jiang, X.1
Ory, D.S.2
Han, X.3
-
33
-
-
84881234258
-
Fast LC - MS / MS analysis of free oxysterols derived from reactive oxygen species in human plasma and carotid plaque
-
Helmschrodt C., Becker S., Schröter J., Hecht M., Aust G., Thiery J., et al. Fast LC - MS / MS analysis of free oxysterols derived from reactive oxygen species in human plasma and carotid plaque. Clin Chim Acta 2013, 425:3-8.
-
(2013)
Clin Chim Acta
, vol.425
, pp. 3-8
-
-
Helmschrodt, C.1
Becker, S.2
Schröter, J.3
Hecht, M.4
Aust, G.5
Thiery, J.6
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