A PSEUDODEFICIENCY ALLELE COMMON IN NON-JEWISH TAY-SACHS CARRIERS - IMPLICATIONS FOR CARRIER SCREENING von TRIGGSRAINE, BL, MULES, EH, KABACK, MM, LIMSTEELE, JST, DOWLING, CE, AKERMAN, BR, NATOWICZ, MR, GREBNER, EE, NAVON, R, WELCH, JP, GREENBERG, CR, THOMAS, GH, GRAVEL, RA

Volltext

Distribution of a pseudodeficiency allele among Tay-Sachs carriers von Tomczak, J, Boogen, C, Grebner, E E

Volltext

Distribution of three α-chain β-hexosaminidase A mutations among Tay-Sachs carriers von GREBNER, E. E, TOMCZAK, J

Volltext

Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain von van Bael, M, Natowicz, M R, Tomczak, J, Grebner, E E, Prence, E M

Volltext

Three novel β-hexosaminidase a mutations in obligate carriers of Tay-Sachs disease von Tomczak, Jerzy, Grebner, Eugene E.

Volltext

An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease von Shore, Shirah, Tomczak, Jerzy, Grebner, Eugene E., Myerowitz, Rachel

Volltext

Prenatal diagnosis for Tay-Sachs disease using chorionic villus sampling von Grebner, Eugene E., Jackson, Laird G.

Volltext

Juvenile GM2 gangliosidosis (AuMB variant): inability to activate hexosaminidase A by activator protein von INUI, K, GREBNER, E. E, JACKSON, L. G, WENGER, D. A

Volltext

Two abnormalities of hexosaminidase A in clinically normal individuals von Grebner, E E, Mansfield, D A, Raghavan, S S, Kolodny, E H, d'Azzo, A, Neufeld, E F, Jackson, L G

Volltext

Prenatal diagnosis of Tay-Sachs disease: Studies on the reliability of hexosaminidase levels in amniotic fluid von Grebner, Eugene E., Jackson, Laird G.

Volltext

Prenatal diagnosis of neurolipidoses von Grebner, E E, Jackson, L G

Volltext

Use of 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-β-D-glucopyranoside for prenatal diagnosis of tay-sachs disease using chorionic villi von Grebner, Eugene E., Wenger, David A.

Volltext

Glycosylation of serine residues by a uridine diphosphate-xylose: Protein xylosyltransferase from mouse mastocytoma von Grebner, Eugene E., Hall, Clara W., Neufeld, Elizabeth F.

Volltext

Human urinary N-acetyl- β-hexosaminidases von Grebner, Eugene E., Tucker, James

Volltext

Stimulation of a protein glycosylation reaction by lysozyme von Grebner, Eugene E., Neufeld, Elizabeth F.

Volltext

Early prenatal diagnosis of mucolipidosis IV von Ornoy, A., Arnon, J., Gerbner, E. E., Jackson, L. G., Bach, G., Opitz, John M.

Volltext

Heterozygosity for Tay-Sachs disease in non-Jewish American with ancestry from Ireland or Great Britain von VAN BAEL, M, NATOWICZ, M. R, TOMCZAK, J, GREBNER, E. E, PRENCE, E. M

Volltext

Formation of β-D-Fructofuranosyl-α-D-ribo-hexopyranoside-3-ulose by a Micrococcus sp von GREBNER, EUGENE E, DURBIN, RICHARD, FEINGOLD, DAVID S

Volltext

Use of 4-methylumbelliferyl-6-shulpho-2-acetamido-2-deoxy-β-D-glucopyranoside for prenatal diagnosis of Tay-Sachs disease using chorionic villi von GREBNER, E. E, WENGER, D. A

Volltext

Incorporation of D-xylose-C14 into glycoprotein by particles from hen oviduct von Grebner, E E, Hall, C W, Neufeld, E F

Volltext