نتایج جستجو برای: tay sachs disease
تعداد نتایج: 1492516 فیلتر نتایج به سال:
Sandhoff disease is a neurodegenerative disease caused due to deficiency of hexosaminidase (HEX) A and B. A 1-year-old male child presented with regression of milestones, exaggerated startle response, decreased vision, and seizures from 6 months of age. The child had coarse facies without hepatosplenomegaly. Serum levels of β hexosaminidase total (A + B) were low. Genetic testing for Sandhoff d...
RESUMO A doença de Tay-Sachs é um distúrbio neurodegenerativo autossômico recessivo, o qual envolve metabolismo dos lipídios, levando ao acúmulo gangliosídeos nos tecidos, devido à deficiência da enzima hexosaminidase A. Esse depósito progressivo resulta em perda função neurológica e, quando acomete as células ganglionares mácula, causa achado típico doença, a “mácula cereja”. patologia diagnos...
Lysosomal storage disorders (LSDs) are considered to be a rare metabolic disease for the national health forum, clinicians, and scientists. This study aimed to know the prevalence of different LSDs, their geographical variation, and burden on the society. It included 1,110 children from January 2002 to December 2012, having coarse facial features, hepatomegaly or hepatosplenomegaly, skeletal dy...
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