نتایج جستجو برای: cherry red spot
تعداد نتایج: 191233 فیلتر نتایج به سال:
Sandhoff is a rare genetic disease with autosomal recessive inheritance, caused by deficiency in hexosaminidase B enzyme. Symptoms usually begin 6 months after birthday and include developmental delay, visual impairment, seizures, and cherry red spots in the eyes. In this report we present a patient with Sandhoff disease which is confirmed by enzyme assay and molecular methods.
Gangliosidoses belong to the group of genetic lipid metabolism disorders, caused by defects lysosome enzymes, inherited as an autosomal recessive trait. Gangliosidosis GM1 is deficiency acid beta-galactosidase (GLB11) resulting in storage substrate- ganglioside brain and visceral organs. gangliosidosis comprises three phenotypes, depending on age onset: infantile, juvenile adult type. In infant...
BACKGROUND Lysosomal storage diseases (LSD) often manifest with cherry red macular spots. Diagnosis is based on clinical features and specific biochemical and enzymatic patterns. In uncertain cases, genetic testing with next generation sequencing can establish a diagnosis, especially in milder or atypical phenotypes. We report on the diagnostic work-up in a boy with sialidosis type I, presentin...
The Great Red Spot, the largest of Jupiter’s long lived, approximately two dimensional, coherent vortices, measures approximately 26, 000 × 13, 000 km in the horizontal direction and is assumed to be roughly 20-40 km deep. Previous studies, including laboratory experiments and numerical simulations, suggest that many of the important characteristics of Jovian vortices can be explained through q...
(1) Background: The aim of the study was to use innovative sensor technology for non-destructive determination and prediction of optimum harvest date (OHD), using sweet cherry as a model fruit, based on different ripening parameters. (2) Methods: Two cherry varieties in two growing systems viz. field and polytunnel in two years were employed. The fruit quality parameters such as fruit weight an...
Dispersive liquid-liquid microextraction method (DLLME) combined with high-performance liquid chromatography-ultraviolet detection (HPLC-UV) was used to determine thiamine (B1), nicotinamide (B3) and pyridoxine (B6) in sour cherry juice. This method was rapid, simple and sensitive. Separation was accomplished using a C18 column. The optimum chromatographic conditions were found to be: mobile ph...
Most persons with rubella virus-specific immunoglobulin M (IgM)- or IgG-positive sera tested positive (98% [n = 178] and 99% [n = 221], respectively) using paired filter paper dried blood spot (DBS) samples, provided that DBS indeterminate results were called positive. For persons with IgM- or IgG-negative sera, 97% and 98%, respectively, were negative using DBS.
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