Search results for "Lysosphingomyelin"

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Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study.

2015

Niemann-Pick disease type C (NP-C) is a devastating, neurovisceral lysosomal storage disorder which is characterised by variable manifestation of visceral signs, progressive neuropsychiatric deterioration and premature death, caused by mutations in the NPC1 and NPC2 genes. Due to the complexity of diagnosis and the availability of an approved therapy in the EU, improved detection of NP-C may have a huge impact on future disease management. At the cellular level dysfunction or deficiency of either the NPC1 or NPC2 protein leads to a complex intracellular endosomal/lysosomal trafficking defect, and organ specific patterns of sphingolipid accumulation. Lysosphingolipids have been shown to be e…

MalePathologyEndocrinology Diabetes and Metabolismlcsh:MedicineDiseaseBiochemistryEndocrinologySphingosineTandem Mass Spectrometrylcsh:ScienceBlood Specimen CollectionMultidisciplinaryNiemann-Pick Disease Type CInherited Metabolic DisordersLipidsBiomarker (medicine)FemaleNiemann–Pick diseaseNiemann-Pick diseaseResearch ArticleAdultmedicine.medical_specialtyAdolescentPhosphorylcholineYoung AdultDiagnostic MedicineGeneticsmedicineHumansSphingolipidosisClinical geneticsMolecular BiologyEdetic AcidAgedRetrospective StudiesMedicine and health sciencesSphingolipidsNiemann–Pick disease type Cbusiness.industryHeparinlcsh:RCase-control studyPsychosineReproducibility of ResultsBiology and Life SciencesRetrospective cohort studymedicine.diseaseSphingolipidCase-Control StudiesAutosomal recessive diseasesMetabolic Disorderslcsh:QNPC1businessLysosphingomyelinBiomarkersPloS one
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