Identification of novel bile acids as biomarkers for the early diagnosis of Niemann-Pick C disease [PDF]
, 2016 This article describes a rapid UPLC-MS/MS method to quantitate novel bile acids in biological fluids and the evaluation of their diagnostic potential in Niemann-Pick C (NPC). Two new compounds, NPCBA1 (3β-hydroxy,7β-N-acetylglucosaminyl-5-cholenoic acid)
Camuzeaux, S +13 more
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Precision medicine in cats:novel niemann-pick type C1 diagnosed by whole-genome sequencing [PDF]
, 2017 State-of-the-art health care includes genome sequencing of the patient to identify genetic variants that contribute to either the cause of their malady or variants that can be targeted to improve treatment.
1 +39 more
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Unravelling new pathways of sterol metabolism [PDF]
, 2017 Purpose of reviewTo update researchers of recently discovered metabolites of cholesterol and of its precursors and to suggest relevant metabolic pathways.Recent findingsPatients suffering from inborn errors of sterol biosynthesis, transport and ...
Björkhem +23 more
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Treatment with miglustat reverses the lipid-trafficking defect in Niemann–Pick disease type C
Neurobiology of Disease, 2004 Niemann–Pick disease type C (NP-C) is a hereditary neurovisceral lipid storage disorder. Although traditionally considered a primary cholesterol storage disorder, a variety of glycolipids accumulate in NP-C cells, which resemble those from ...
Robin H Lachmann +9 more
doaj +1 more source
Niemann-Pick Disease, Type A: Clinical Case of 5 Months Old Patient
Вопросы современной педиатрииBackground. Niemann-Pick disease, type A is a rare hereditary disease from the group of lysosomal storage diseases, it is characterized by early onset and progressive course. Description of this disease’s clinical cases is crucial for early diagnosis and
Nataliya V. Zhurkova +7 more
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Quantitating the epigenetic transformation contributing to cholesterol homeostasis using Gaussian process. [PDF]
, 2019 To understand the impact of epigenetics on human misfolding disease, we apply Gaussian-process regression (GPR) based machine learning (ML) (GPR-ML) through variation spatial profiling (VSP). VSP generates population-based matrices describing the spatial
Balch, William E +8 more
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Genetic and laboratory diagnostic approach in Niemann Pick disease type C [PDF]
, 2014 core +1 more source
The expanding boundaries of sphingolipid lysosomal storage diseases; insights from Niemann-Pick disease type C. [PDF]
Biochem Soc Trans, 2023 Platt FM.
europepmc +1 more source
Enhanced mGluR5 intracellular activity causes psychiatric alterations in Niemann Pick type C disease
Cell Death and DiseaseNiemann-Pick disease Type C (NPC) is caused by mutations in the cholesterol transport protein NPC1 leading to the endolysosomal accumulation of the lipid and to psychiatric alterations.
Ana Toledano-Zaragoza +9 more
doaj +1 more source