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(unesterified cholesterol accumulation in cultured fibroblasts) AND ("english and humans"[Filter]) AND ( ("practice guideline"[Filter]) OR (practice*[titl] AND (guideline[titl] OR parameter[titl] OR resource[titl] OR bulletin[titl] OR best[titl])) OR (genetic*[titl] AND (evaluation[titl] OR counseling[titl] OR screening[titl] OR test*[titl])) OR (clinical[titl] AND ((expert[titl] AND consensus[titl]) OR utility[titl] OR guideline*[titl])) OR (management[titl] AND (clinical[titl] OR diagnos*[titl] OR recommendation[titl] OR pain[titl] OR surveillance[titl] OR emergency[titl] OR guideline*[titl] OR therap*)) OR (treatment[titl] AND ((evaluation[titl] AND diagnosis[titl]) OR (assessment[titl] AND prevention[titl]) OR therap*)) OR (Diagnos*[titl] AND (prenatal[titl] OR treatment[titl] OR follow-up[titl] OR statement[titl] OR criteria[titl] OR newborn[titl] OR differential[titl] OR neonatal[titl] OR neonate[titl])) OR (guideline*[titl] AND (pharmacogenetic*[titl] OR recommendation[titl] OR therap*[titl] OR evidence-based[titl] OR consensus[titl] OR (technical[titl] AND standard*[titl]) OR (molecular[titl] AND testing[titl]))) OR (risk[titl] AND assessment[titl]) OR (recommendation*[titl] AND (statement[titl] OR Evidence-based[titl] OR Consensus[titl])) OR (care AND ((Patient[titl] AND standard*[titl]) OR primary[titl] OR psychosocial[titl])) OR (Health[titl] AND supervision[titl]) OR (statement[titl] AND (policy[titl] OR position[titl] OR Consensus[titl])) OR (pharmacogenetics[titl] AND (Dosing[titl] OR therap*[titl] OR genotype*[titl] OR drug*[titl])) OR (Chemotherapy[titl] AND decision*[titl]) OR (screening[titl] AND (newborn[titl] OR neonat*[titl] OR detection[titl] OR diagnos*[titl])) OR (criteria[titl] OR genotype*[titl]) ) NOT ("Case reports"[Publication type] OR "clinical study"[Publication Type] OR "randomized controlled trial"[Publication Type])

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New agents and approaches to treatment in Niemann-Pick type C disease.

Pérez-Poyato MS, Pineda M. Pérez-Poyato MS, et al. Curr Pharm Biotechnol. 2011 Jun;12(6):897-901. doi: 10.2174/138920111795542697. Curr Pharm Biotechnol. 2011. PMID: 21235443 Review.

The key laboratory diagnostic test for NP-C is filliping staining of cultured skin fibroblasts from the patient, to demonstrate free cholesterol accumulation in lysosomes secondary to impaired intracellular cholesterol transport. ...The interven …

The key laboratory diagnostic test for NP-C is filliping staining of cultured skin fibroblasts from the patient, to demonstrat …

Prenatal diagnosis of Niemann-Pick type C disease: current strategy from an experience of 37 pregnancies at risk.

Vanier MT, Rodriguez-Lafrasse C, Rousson R, Mandon G, Boué J, Choiset A, Peyrat MF, Dumontel C, Juge MC, Pentchev PG, et al. Vanier MT, et al. Am J Hum Genet. 1992 Jul;51(1):111-22. Am J Hum Genet. 1992. PMID: 1609791 Free PMC article.

The current strategy, based on the demonstration of specific abnormalities in intracellular processing of exogenous cholesterol, combines the study of the early phase (first 6 h) of LDL-induced cholesteryl ester formation and the histochemical evaluation (filipin staining …

The current strategy, based on the demonstration of specific abnormalities in intracellular processing of exogenous cholesterol, comb …

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