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1.
N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease.
J Lipid Res
; 60(8): 1410-1424, 2019 08.
Article
in English
| MEDLINE | ID: mdl-31201291
2.
Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1).
Hum Mol Genet
; 23(22): 6022-33, 2014 Nov 15.
Article
in English
| MEDLINE | ID: mdl-24964810
3.
Altered distribution and function of natural killer cells in murine and human Niemann-Pick disease type C1.
Blood
; 123(1): 51-60, 2014 Jan 02.
Article
in English
| MEDLINE | ID: mdl-24235134
4.
Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1.
Hum Mol Genet
; 22(17): 3508-23, 2013 Sep 01.
Article
in English
| MEDLINE | ID: mdl-23666527
5.
Development and validation of sensitive LC-MS/MS assays for quantification of HP-ß-CD in human plasma and CSF.
J Lipid Res
; 55(7): 1537-48, 2014 07.
Article
in English
| MEDLINE | ID: mdl-24868096
6.
Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.
Hum Mol Genet
; 21(16): 3632-46, 2012 Aug 15.
Article
in English
| MEDLINE | ID: mdl-22619379
7.
Human and mouse neuroinflammation markers in Niemann-Pick disease, type C1.
J Inherit Metab Dis
; 37(1): 83-92, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-23653225
8.
Auditory phenotype of Niemann-Pick disease, type C1.
Ear Hear
; 35(1): 110-7, 2014.
Article
in English
| MEDLINE | ID: mdl-24225652
9.
Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling.
J Lipid Res
; 54(10): 2800-14, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23881911
10.
Invariant natural killer T cells are not affected by lysosomal storage in patients with Niemann-Pick disease type C.
Eur J Immunol
; 42(7): 1886-92, 2012 Jul.
Article
in English
| MEDLINE | ID: mdl-22585405
11.
A somatic cell defect is associated with the onset of neurological symptoms in a lysosomal storage disease.
Mol Genet Metab
; 110(1-2): 188-90, 2013.
Article
in English
| MEDLINE | ID: mdl-23850077
12.
Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1.
Am J Med Genet A
; 158A(11): 2775-80, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-23023945
13.
Growth charts for individuals with Smith-Lemli-Opitz syndrome.
Am J Med Genet A
; 158A(11): 2707-13, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22615010
14.
A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.
J Lipid Res
; 52(7): 1435-45, 2011 07.
Article
in English
| MEDLINE | ID: mdl-21518695
15.
Oxidative stress in Niemann-Pick disease, type C.
Mol Genet Metab
; 101(2-3): 214-8, 2010.
Article
in English
| MEDLINE | ID: mdl-20667755
16.
Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C.
Am J Med Genet B Neuropsychiatr Genet
; 153B(1): 132-40, 2010 Jan 05.
Article
in English
| MEDLINE | ID: mdl-19415691
17.
Corpus callosum diffusion tensor imaging and volume measures are associated with disease severity in pediatric Niemann-Pick disease type C1.
Pediatr Neurol
; 51(5): 669-674.e5, 2014 Nov.
Article
in English
| MEDLINE | ID: mdl-25194719
18.
Altered transition metal homeostasis in Niemann-Pick disease, type C1.
Metallomics
; 6(3): 542-53, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24343124
19.
Collaborative development of 2-hydroxypropyl-ß-cyclodextrin for the treatment of Niemann-Pick type C1 disease.
Curr Top Med Chem
; 14(3): 330-9, 2014.
Article
in English
| MEDLINE | ID: mdl-24283970
20.
Relative acidic compartment volume as a lysosomal storage disorder-associated biomarker.
J Clin Invest
; 124(3): 1320-8, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24487591