Search results for "Cholestane 3β 5α 6β triol"

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Niemann-Pick Type C-2 Disease: Identification by Analysis of Plasma Cholestane-3β,5α,6β-Triol and Further Insight into the Clinical Phenotype.

2014

Niemann-Pick type C disease is a rare disorder caused by impaired intracellular lipid transport due to mutations in either the NPC1 or the NPC2 gene. Ninety-five % of NPC patients show mutations in the NPC1 gene. A much smaller number of patients suffer from NPC2 disease and present respiratory failure as one of the most frequent symptoms. Several plasma oxysterols are highly elevated in NPC1 and can be used as a biomarker in the diagnosis of NPC1.Plasma cholestane-3β,5α,6β-triol was evaluated as biomarker for NPC2 by GC/MS and LC-MS/MS analysis. The diagnosis was confirmed by Sanger sequencing and filipin staining.We report three NPC2 patients with typical respiratory problems and a detail…

Pathologymedicine.medical_specialtycongenital hereditary and neonatal diseases and abnormalitiesbusiness.industrynutritional and metabolic diseasesDiseaseIntracellular lipid transportmedicine.diseaseArticlenervous system diseasesRespiratory failurehemic and lymphatic diseasesImmunologyMedicineCholestane 3β 5α 6β triolBiomarker (medicine)lipids (amino acids peptides and proteins)NPC1businessPulmonary alveolar proteinosisGeneJIMD reports
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