Results 141 to 150 of about 4,924,951 (177)
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Archives of Neurology, 2004
Tay-Sachs disease is an autosomal recessive disease caused by a deficiency of β-hexosaminidase A, the lysosomal enzyme that normally degrades GM2 ganglioside. As a result, GM2 ganglioside accumulates in the lysosomes of nerve cells. The disease is one of a family of lysosomal storage disorders known as GM2 gangliosidoses, each determined by the ...
Jose Americo, Fernandes Filho +1 more
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Tay-Sachs disease is an autosomal recessive disease caused by a deficiency of β-hexosaminidase A, the lysosomal enzyme that normally degrades GM2 ganglioside. As a result, GM2 ganglioside accumulates in the lysosomes of nerve cells. The disease is one of a family of lysosomal storage disorders known as GM2 gangliosidoses, each determined by the ...
Jose Americo, Fernandes Filho +1 more
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The Child with TAY-SACHS Disease
AJN, American Journal of Nursing, 1963v 1881, WARREN TAY described a bilateral retinal disorder in infants characterized by macular degeneration (1). Six years later, Bernard Sachs described infantile amaurotic family idiocy (IAFI) which subsequently became known as TaySachs disease(2).
N W, VALSAMIS, M P, VALSAMIS
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Is Tay-Sachs Disease Increasing?
Nature, 1969TAY-SACHS disease, caused by a recessive autosomal gene, occurs approximately a hundred times more frequently in Jews from Central Europe (Ashkenazi) than in those from the Mediterranean Basin (Sephardic). Myrianthopoulos and Aronson1 proposed that the difference in gene frequency of the two populations is a consequence of simple heterozygote advantage
R F, Shaw, A P, Smith
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Acta Paediatrica, 1966
SummaryA detailed histological and biochemical study was performed on autopsy material from an advanced case of typical infantile amaurotic idiocy in a non‐Jewish boy.Many nerve cells were distended by accumulated glycolipids, but in others no signs of storage were seen in the cell body while large amounts of lipids had accumulated in balloon‐shaped ...
ORVAR EEG‐OLOFSSON +3 more
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SummaryA detailed histological and biochemical study was performed on autopsy material from an advanced case of typical infantile amaurotic idiocy in a non‐Jewish boy.Many nerve cells were distended by accumulated glycolipids, but in others no signs of storage were seen in the cell body while large amounts of lipids had accumulated in balloon‐shaped ...
ORVAR EEG‐OLOFSSON +3 more
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Tay-sachs disease: To screen or not to screen?
Journal of Religion and Health, 1976lo a Jewish iamily awaiting a physicians health report on their newborn there are no words more devastating than "your :hild has Tay-Sachs1 disease." Because this congenital disorder2 is fatal in the early years of a child's life coupled with the statis tical studies showing that it strikes primarily Jewish families of East European heritage an ...
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1993
Tay-Sachs disease, which is inherited in an autosomal recessive manner, is a fatal disease. It is characterized by the absence or deficiency of the enzyme hexosaminidase A. This biochemical defect results in an abnormal deposition of gangliosidase in the central nervous system and the liver.
Juan Orellana, Alan H. Friedman
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Tay-Sachs disease, which is inherited in an autosomal recessive manner, is a fatal disease. It is characterized by the absence or deficiency of the enzyme hexosaminidase A. This biochemical defect results in an abnormal deposition of gangliosidase in the central nervous system and the liver.
Juan Orellana, Alan H. Friedman
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1996
This condition is usually only seen in Ashkenazi Jewish families, where the incidence is thought to be as high as around one in every 4000 live births. A further population group in which this serious condition occurs is French Canadians. Older children and adults are virtually never seen with Tay—Sachs disease, as death inevitably occurs in early ...
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This condition is usually only seen in Ashkenazi Jewish families, where the incidence is thought to be as high as around one in every 4000 live births. A further population group in which this serious condition occurs is French Canadians. Older children and adults are virtually never seen with Tay—Sachs disease, as death inevitably occurs in early ...
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Clinical proceedings - Children's Hospital of the District of Columbia, 2008
E C, RICE, H, BISCHOFF
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E C, RICE, H, BISCHOFF
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