نتایج جستجو برای: niemann
تعداد نتایج: 2304 فیلتر نتایج به سال:
A female non-smoker in her thirties was referred to the chest clinic with a 6-month history of a dry cough, breathlessness and general malaise. Her chest x ray showed diffuse bilateral ground-glass opacity (fig 1). Her autoimmune profile was negative. An HIV test was negative. Lung function tests showed a restrictive pattern with moderately reduced transfer factor. A high resolution CT (HRCT) s...
BACKGROUND Diagnosis of Niemann-Pick (A and B) and Krabbe diseases is achieved by measurement of the lysosomal enzymes acid sphingomyelinase (ASM) and galactocerebroside beta-galactosidase (GCG), respectively. Conventional assays use radiolabeled or fluorescent substrates and do not allow simultaneous determination of two or more enzymes in the sample. METHODS We developed a sensitive and spe...
Objective To noninvasively assess the neurodegenerative changes in the brain of patients with Niemann-Pick type C (NPC) disease by measuring the lesion tissue with the iterative decomposition of water and fat with echo asymmetry and least square estimation-iron quantification (IDEAL-IQ). Materials and Methods Routine brain MRI, IDEAL-IQ and 1H-proton magnetic resonance spectroscopy (1H-MRS, s...
: Niemann-Pick disease type A (NPA) is a lysosomal storage disease caused by mutations in the SMPD1 gene that encodes acid sphingomyelinase (ASM). Deficiency in ASM function results in lysosomal accumulation of sphingomyelin and neurodegeneration. Currently, there is no effective treatment for NPA. To accelerate drug discovery for treatment of NPA, we generated induced pluripotent stem cells fr...
Összefoglaló. A Niemann–Pick-betegség autoszomális recesszíven örökl?d? lizoszomális tárolási betegség, amelynek hátterében a savi szfingomielináz enzim hiánya vagy csökkent aktivitása (A-, A/B- és B-típus), illetve Niemann–Pick C intracelluláris koleszterintranszporter fehérje deficientiája (C- D-típus) állhat. defektus következtében szfingomielin koleszterin halmozódik fel sejtek lizoszómáiba...
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