A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma. - Wikidata - wikimedia - TriplyDB

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.

http://www.wikidata.org/entity/Q35067272

about

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease Sterols and oxysterols in plasma from Smith-Lemli-Opitz syndrome patients Niemann-Pick disease type C symptomatology: an expert-based clinical description Genetic and laboratory diagnostic approach in Niemann Pick disease type C Collaborative development of 2-hydroxypropyl-β-cyclodextrin for the treatment of Niemann-Pick type C1 disease Dysregulation of cholesterol balance in the brain: contribution to neurodegenerative diseases Impaired cholesterol efflux in senescent macrophages promotes age-related macular degeneration Pre-symptomatic activation of antioxidant responses and alterations in glucose and pyruvate metabolism in Niemann-Pick Type C1-deficient murine brain Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.Miglustat: a review of its use in Niemann-Pick disease type C.Tracking the subcellular fate of 20(s)-hydroxycholesterol with click chemistry reveals a transport pathway to the Golgi.Adaptations of energy metabolism associated with increased levels of mitochondrial cholesterol in Niemann-Pick type C1-deficient cells.Diagnosis of Niemann-Pick disease type C with 7-ketocholesterol screening followed by NPC1/NPC2 gene mutation confirmation in Chinese patients Niemann-Pick C disease and mobilization of lysosomal cholesterol by cyclodextrin Psychiatric signs and symptoms in treatable inborn errors of metabolism.Early steps in steroidogenesis: intracellular cholesterol trafficking.Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann-Pick C1 (NPC1)Cholesterol in brain disease: sometimes determinant and frequently implicated.Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease.Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.Observational cohort study of the natural history of Niemann-Pick disease type C in the UK: a 5-year update from the UK clinical database.Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiency.Microarray expression analysis and identification of serum biomarkers for Niemann-Pick disease, type C1.Intrathecal 2-hydroxypropyl-beta-cyclodextrin in a single patient with Niemann-Pick C1.Cholesterolomics: An update Quantitative proteomic analysis of Niemann-Pick disease, type C1 cerebellum identifies protein biomarkers and provides pathological insight.A rare case of Niemann-Pick disease type C without neurological involvement in a 66-year-old patient.Detection and confirmation of serum lipid biomarkers for preeclampsia using direct infusion mass spectrometry.Niemann-Pick disease type C clinical database: cognitive and coordination deficits are early disease indicators Relationship between serum polyunsaturated fatty acids and pregnancy in women undergoing in vitro fertilization.Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann-Pick disease, type C1.A Suspicion Index to aid screening of early-onset Niemann-Pick disease Type C (NP-C)Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.Genetic screening for Niemann-Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease.Determination of 7-ketocholesterol in plasma by LC-MS for rapid diagnosis of acid SMase-deficient Niemann-Pick disease.

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P2860

A sensitive and specific LC-MS/MS method for rapid diagnosis of Niemann-Pick C1 disease from human plasma.

http://www.wikidata.org/entity/Q35067272

description

2011 nî lūn-bûn

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2011 թուականի Ապրիլին հրատարակուած գիտական յօդուած

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2011 թվականի ապրիլին հրատարակված գիտական հոդված

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2011年の論文

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年学术文章

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2011年學術文章

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name

A sensitive and specific LC-MS ...... C1 disease from human plasma.

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A sensitive and specific LC-MS ...... C1 disease from human plasma.

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type

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A sensitive and specific LC-MS ...... C1 disease from human plasma.

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A sensitive and specific LC-MS ...... C1 disease from human plasma.

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A sensitive and specific LC-MS ...... C1 disease from human plasma.

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A sensitive and specific LC-MS ...... C1 disease from human plasma.

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P1433

Journal of Lipid Research

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A sensitive and specific LC-MS ...... C1 disease from human plasma.

@en

P2093

Daniel S Ory

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Danielle Taylor te Vruchte

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David E Scherrer

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Dennis J Dietzen

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Forbes D Porter

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Hideji Fujiwara

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Jean E Schaffer

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Jessie Zhang

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Nicole M Yanjanin

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Xuntian Jiang

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P2860

Identification of HE1 as the second gene of Niemann-Pick C disease

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

Niemann-Pick C1 protects against atherosclerosis in mice via regulation of macrophage intracellular cholesterol trafficking

The adult form of Niemann-Pick disease type C.

Clues to neuro-degeneration in Niemann-Pick type C disease from global gene expression profiling

Pitfalls associated with the use of liquid chromatography-tandem mass spectrometry in the clinical laboratory.

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C

Oxidative stress in NPC1 deficient cells: protective effect of allopregnanolone.

Oxysterols: modulators of cholesterol metabolism and other processes.

Niemann-Pick type C: a disorder of cellular cholesterol trafficking.

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1435-1445

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scholarly article

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10.1194/JLR.D015735

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7

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52

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Anneliese O Speak

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2011-04-24T00:00:00Z

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21518695

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3122908

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