Results 151 to 160 of about 20,780 (190)
Atypical presentation of late-onset Tay-Sachs disease. [PDF]
Muscle Nerve, 2014 Deik A, Saunders-Pullman R.
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Power and Pity: Two Responses to Suffering Humanity [PDF]
, 1980 MacDonald, Sebastian
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Synthetic Hype: A Skeptical View of the Promise of Synthetic Biology [PDF]
, 2011 Kahn, Jonathan
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[Book Review of] \u3cem\u3eEthical Issues in Human Genetics\u3c/em\u3e, by Bruce Hilton et al., editors [PDF]
, 1974 Lebel, Robert Roger
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New England Journal of Medicine, 1969
Tay—Sachs disease, an inherited autosomal recessive abnormality that occurs in infants usually of Ashkenazic Jewish parentage, is characterized by mental retardation and amaurosis.
R H, Wilkins, I A, Brody
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Tay—Sachs disease, an inherited autosomal recessive abnormality that occurs in infants usually of Ashkenazic Jewish parentage, is characterized by mental retardation and amaurosis.
R H, Wilkins, I A, Brody
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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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International Journal of Nursing Education and Research, 2021
Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord..also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder.
Bhawana Bhende
semanticscholar +1 more source
Tay–Sachs disease is a genetic disorder that results in the destruction of nerve cells in the brain and spinal cord..also known as GM2 gangliosidosis or Hexosaminidase A deficiency) is an autosomal recessive genetic disorder.
Bhawana Bhende
semanticscholar +1 more source
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
openaire +1 more source