Results 71 to 80 of about 5,175,842 (164)
The structure of cerebrosides in Gaucher's disease*
Crystalline cerebrosides were isolated from the spleen of a woman with Gaucher's disease. The cerebrosides accounted for 38 per cent of the total spleen lipids and 0.89 per cent of the fresh spleen.
G.V. Marinetti, T. Ford, Elmer Stotz
doaj +1 more source
AbstractPeriodontitis is a complex inflammatory disease in which the host genome, in conjunction with extrinsic factors, determines susceptibility and progression. Genetic predisposition is the strongest risk factor in the first decades of life. As people age, chronic exposure to the periodontal microbiome puts a strain on the proper maintenance of ...
Arne S. Schaefer +4 more
wiley +1 more source
Gaucher's disease in the lipidomics era
Human diseases that result directly from alterations in sphingolipid metabolism are generally disorders of the degradation of these compounds. A defect in the lysosomal degradation of glucosylceramide results in the phenotype of Gaucher’s disease, the ...
Fuller, M.
core +1 more source
Lipids of the spleen in Gaucher's disease
Thin-layer chromatography (TLC) was used to analyze lipids of eight spleens of patients with Gaucher's disease. Four non-Gaucher spleens were also analyzed.
William D. Suomi, Bernard W. Agranoff
doaj +1 more source
The what, which, when, why and who of Off responses in the auditory system
Abstract figure legend In this article, we will first review ‘What’ different mechanisms are involved in the generation of Off responses at the sub‐cortical and cortical level of the auditory system. Then, we evaluate ‘Which’ stimulus properties elicit Off responses at the different levels of the auditory system.
Jean‐Marc Edeline, Robert C. Liu
wiley +1 more source
Unidentified Reticuloendothelial Cell Storage Disease
1. An abnormal cell of probably reticuloendothelial origin with prominent cytoplasmic granules was observed in the bone marrow, liver and a lymph node of an adult white female with incidentally discovered, asymptomatic hepatosplenomegaly.
MALININ, THEODORE I
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An Overview on Audiological Abnormalities in Gaucher's Disease [PDF]
Background: A group of metabolic disorders known as glycosphingolipid (GSL) lysosomal storage illnesses are brought on by mutations in the genes that code for the activator proteins or hydrolases that catabolise GSLs inside lysosomes.
Osama Elsafy +3 more
doaj +1 more source
Objective This study aimed to investigate hand function trajectories over five years in primary hand osteoarthritis (OA). Additionally, determinants of baseline and longitudinal hand function were assessed. Methods A total of 538 patients with both baseline and five‐year study visits were analyzed.
Annemiek V. E. M. Olde Meule +4 more
wiley +1 more source
GAUCHER’S DISEASE AT A NATIONAL REFERRAL HOSPITAL
Objectives: To determine the prevalence and to characterise Gaucher’s disease in terms of socio-demographic data, clinical presentation, and management as seen at Kenyatta National Hospital.Design: A retrospective record based study.Setting: Kenyatta ...
RAJAB, J.A., IRERI, J.M., MURILA, F.
core
Doença de Gaucher na gravidez.
A case of Gaucher's disease associated with pregnancy is reported. Although clinical symptoms were not present, portal hypertension was detected by ultrasound in the 13th week of pregnancy.
I B Santana +5 more
doaj +1 more source

