Results 171 to 180 of about 20,780 (190)

In silico analyses of essential interactions of iminosugars with the Hex A active site and evaluation of their pharmacological chaperone effects for Tay-Sachs disease.

Organic and biomolecular chemistry, 2017
A. Kato, I. Nakagome, S. Nakagawa, Kyoko Kinami, I. Adachi, S. F. Jenkinson, J. Désiré, Y. Blériot, R. Nash, G. Fleet, S. Hirono   +10 more
semanticscholar   +1 more source

Prenatal Diagnosis of Tay-Sachs Disease.

Methods in molecular biology, 2018
Jinglan Zhang, Hongjie Chen, R. Kornreich, Chunli Yu   +3 more
semanticscholar   +1 more source

ENZYME ALTERATIONS AND LIPID STORAGE IN THREE VARIANTS OF TAY‐SACHS DISEASE

Journal of Neurochemistry, 1971
Konrad Sandhoff, K. Harzer, Werner Wässle, Horst Jatzkewitz   +3 more
semanticscholar   +1 more source

Presentation of central precocious puberty in two patients with Tay-Sachs disease

HORMONES, 2018
S. Acar, N. Arslan, A. Paketçi, Tuncay Derya Okur, K. Demir, E. Böber, A. Abacı   +6 more
semanticscholar   +1 more source

Tay-Sachs Disease

2005
openaire   +1 more source

Ashkenazi Jewish population screening for Tay–Sachs disease: The International and Australian experience

Journal of Paediatrics and Child Health, 2015
Raelia Lew, L. Burnett, A. Proos, K. Barlow-Stewart, M. Delatycki, A. Bankier, H. Aizenberg, M. J. Field, Y. Berman, R. Fleischer, M. Fietz   +10 more
semanticscholar   +1 more source

THE CEREBRAL DEFECT IN TAY‐SACHS DISEASE AND NIEMANN‐PICK DISEASE *

Journal of Neurochemistry, 1961
A. Crocker
semanticscholar   +1 more source

Tay-sachs disease. Detection of heterozygotes and homozygotes by serum hexosaminidase assay.

New England Journal of Medicine, 1970
J. O'brien, S. Okada, A. Chen, D. L. Fillerup   +3 more
semanticscholar   +1 more source

Tay-Sachs Disease: Prenatal Diagnosis

Science, 1971
J. O'brien, S. Okada, D. L. Fillerup, M. L. Veath, Bruce Adornato, P. H. Brenner, J. Leroy   +6 more
semanticscholar   +1 more source

FAMILIAL NEUROVISCERAL LIPIDOSIS. AN ANALYSIS OF EIGHT CASES OF A SYNDROME PREVIOUSLY REPORTED AS "HURLER-VARIANT," "PSEUDO-HURLER," AND "TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT".

A M A Journal of Diseases of Children, 1964
B. Landing, F. Silverman, J. Craig, M. D. Jacoby, M. Lahey, D. Chadwick   +5 more
semanticscholar   +1 more source