Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease
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Niemann-Pick disease type CLipid biomarkers of oxidative stress in a genetic mouse model of Smith-Lemli-Opitz syndromeDiagnostic workup and management of patients with suspected Niemann-Pick type C diseaseCurrent trends in oxysterol researchNiemann-Pick disease type C symptomatology: an expert-based clinical descriptionGenetic and laboratory diagnostic approach in Niemann Pick disease type CCollaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 diseaseGenetic dissection of a cell-autonomous neurodegenerative disorder: lessons learned from mouse models of Niemann-Pick disease type CGenomic expression analyses reveal lysosomal, innate immunity proteins, as disease correlates in murine models of a lysosomal storage disorderRecent advances in the diagnosis and treatment of niemann-pick disease type C in children: a guide to early diagnosis for the general pediatricianPre-symptomatic activation of antioxidant responses and alterations in glucose and pyruvate metabolism in Niemann-Pick Type C1-deficient murine brainAlteration of gene expression profile in Niemann-Pick type C mice correlates with tissue damage and oxidative stressNiemann-Pick C disease gene mutations and age-related neurodegenerative disordersDefective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C DiseaseGpnmb Is a Potential Marker for the Visceral Pathology in Niemann-Pick Type C DiseaseFostering collaborative research for rare genetic disease: the example of niemann-pick type C diseaseThe hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.Intracisternal cyclodextrin prevents cerebellar dysfunction and Purkinje cell death in feline Niemann-Pick type C1 disease.Adult-Onset Niemann-Pick Disease Type C: Rapid Treatment Initiation Advised but Early Diagnosis Remains DifficultUnderstanding the Apothecaries Within: The Necessity of a Systematic Approach for Defining the Chemical Output of the Human MicrobiomeMiglustat: a review of its use in Niemann-Pick disease type C.Diagnostic and treatment implications of psychosis secondary to treatable metabolic disorders in adults: a systematic review.Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patientsDifferent oxysterols have opposing actions at N-methyl-D-aspartate receptors.Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrinGenetic connections between neurological disorders and cholesterol metabolismPsychiatric signs and symptoms in treatable inborn errors of metabolism.Early steps in steroidogenesis: intracellular cholesterol trafficking.Altered transition metal homeostasis in Niemann-Pick disease, type C1.Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1)Rational design of superoxide dismutase (SOD) mimics: the evaluation of the therapeutic potential of new cationic Mn porphyrins with linear and cyclic substituents.Saccadic eye movement characteristics in adult Niemann-Pick Type C disease: relationships with disease severity and brain structural measures.Cholesterol in brain disease: sometimes determinant and frequently implicated.Aging in the canine and feline brainPlasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective studyA sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.Altered vitamin E status in Niemann-Pick type C disease.Lipidomics at the interface of structure and function in systems biologySmall nucleolar RNAs U32a, U33, and U35a are critical mediators of metabolic stress.β-Cyclodextrin-threaded biocleavable polyrotaxanes ameliorate impaired autophagic flux in Niemann-Pick type C disease.
P2860
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P2860
Cholesterol oxidation products are sensitive and specific blood-based biomarkers for Niemann-Pick C1 disease
description
2010 nî lūn-bûn
@nan
2010 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Cholesterol oxidation products ...... rs for Niemann-Pick C1 disease
@ast
Cholesterol oxidation products ...... rs for Niemann-Pick C1 disease
@en
type
label
Cholesterol oxidation products ...... rs for Niemann-Pick C1 disease
@ast
Cholesterol oxidation products ...... rs for Niemann-Pick C1 disease
@en
prefLabel
Cholesterol oxidation products ...... rs for Niemann-Pick C1 disease
@ast
Cholesterol oxidation products ...... rs for Niemann-Pick C1 disease
@en
P2093
P2860
P1476
Cholesterol oxidation products ...... rs for Niemann-Pick C1 disease
@en
P2093
Charles Vite
Dana Olzeski
Daniel S Ory
David E Scherrer
Dennis J Dietzen
Forbes D Porter
Jean E Schaffer
John House
Michael H Lanier
Nicole M Yanjanin
P2860
P304
P356
10.1126/SCITRANSLMED.3001417
P407
P577
2010-11-01T00:00:00Z