Results 161 to 170 of about 12,643 (191)
Screening for Tay-Sachs disease carriers by full-exon sequencing with novel variant interpretation outperforms enzyme testing in a pan-ethnic cohort. [PDF]
Mol Genet Genomic Med, 2019 Cecchi AC +10 more
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Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India. [PDF]
BMC Med Genet, 2018 Sheth J +6 more
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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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[Book Review of] \u3cem\u3eThe Abortion Holocaust: Today\u27s Final Solution\u3c/em\u3e, by William C. Brennan [PDF]
, 1983 May, William E.
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South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1973 openaire +1 more source
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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
openaire +3 more sources
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
openaire +3 more sources
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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