نتایج جستجو برای: npc2
تعداد نتایج: 199 فیلتر نتایج به سال:
BACKGROUND Niemann-Pick disease type C (NP-C) is a rare neurovisceral lipid storage disorder characterised by progressive, disabling neurological symptoms and premature death in most patients. During the last decade, national cohort studies have accrued a great deal of data on the symptomatology and natural history of NP-C. METHODS In an observational cohort study, we present a substantial up...
BACKGROUND Niemann Pick C (NPC) disease is a neurovisceral lysosomal storage disorder due to mutations in NPC1 or NPC2 genes, characterized by the accumulation of endocytosed unesterified cholesterol, gangliosides and other lipids within the lysosomes/late endosomes. Even if the neurodegeneration is the main feature of the disease, the analysis of the molecular pathways linking the lipid accumu...
BACKGROUND Niemann-Pick disease type C (NP-C) is a rare neurovisceral lysosomal lipid storage disease characterized by progressive neurological deterioration. Published data on the use of miglustat in paediatric patients in clinical practice settings are limited. We report findings from a prospective open-label study in the French paediatric NP-C cohort. METHODS Data on all paediatric NP-C pa...
BACKGROUND Niemann-Pick disease type C (NPC) is caused by defects in cholesterol efflux from lysosomes due to mutations of genes coding for NPC1 and NPC2 proteins. As a result, massive accumulation of unesterified cholesterol in late endosomes/lysosomes is observed. At the level of the organism these cholesterol metabolism disorders are manifested by progressive neurodegeneration and hepatosple...
tables on cholesterol by using its oxidation products to diagnose and treat the disease in its earliest stages. drug efficacy. Free cholesterol may be at the root of Niemann-Pick C1 disease, but now, there is a way to turn the markers of early clinical disease and can be used not only to monitor disease progression but also to demonstrate or diabetes. Together, these compelling results suggest ...
It has previously been shown that the combination of two deleted Pelements in trans, one containing the left functional end and the second element the right functional end, can lead to high levels of male recombination. This finding strongly suggests that P-element, ends from different chromosomes can become associated, followed by “pseudo-excision.” We show that two different processes are inv...
Purpose of review: Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay. Recently, substantial progress has been made in the field of NP-C screening and diagnosis, justifying an update to the existing recommendations for clinical practice. Rece...
Transition Semantics. The abstraction transition semantics, which collects abstract 1-step transitions and compositions of these, is given below. AbsTrans = Fnames Fnames 7! P(SizeDep ) CS : AnnExp! Fenv! AbsTrans CSfi [[Clo(fj ; he1; : : : ; eni)]] = Fk CSfi [[ek]] CSfi [[Clo(fj ; he1; : : : ; eni)]] = Fk CSfi [[ek]] t [hfi; fji 7! hS [[e1]] ; : : : ;S[[en]] ;?; : : :;?i] CSfi [[e (e1; : : : ;...
We discuss the use of variables during the planning process as a means of extending the use of least commitment. We show how the use of typed constraints between variables, which we call ‘pairs’, can improve both the efficiency of the planning process and the modelling expressiveness of planning operators. Finally, we report on experiments using pairs in the Chemical Engineering Planner, CEP, a...
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