Search Results - "Grebner, E E"

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

“…Recently Triggs-Raine et al. (1992) identified a new mutation in the gene coding for the [alpha]-subunit of [beta]-hexosaminidase A (hex A), the enzyme whose…”
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Distribution of three α-chain β-hexosaminidase A mutations among Tay-Sachs carriers by GREBNER, E. E, TOMCZAK, J

“…DNA from 176 carriers of the Tay-Sachs gene was tested for the presence of the three mutations most commonly found among Ashkenazi Jews: the so-called…”
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A pseudodeficiency allele common in non-Jewish Tay-Sachs carriers: implications for carrier screening by Triggs-Raine, B L, Mules, E H, Kaback, M M, Lim-Steele, J S, Dowling, C E, Akerman, B R, Natowicz, M R, Grebner, E E, Navon, R, Welch, J P

“…Deficiency of beta-hexosaminidase A (Hex A) activity typically results in Tay-Sachs disease. However, healthy subjects found to be deficient in Hex A activity…”
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Heterozygosity for Tay-Sachs disease in non-Jewish Americans with ancestry from Ireland or Great Britain by van Bael, M, Natowicz, M R, Tomczak, J, Grebner, E E, Prence, E M

“…We performed a genetic epidemiological analysis of American non-Jewish people with ancestry from Ireland or Great Britain with regard to heterozgosity for…”
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Three novel beta-hexosaminidase A mutations in obligate carriers of Tay-Sachs disease by Tomczak, J, Grebner, E E

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Basic concepts in biochemical antenatal diagnosis by Grebner, E E

“…The biochemical test for each inherited metabolic disorder is unique. Each is complex and requires considerable experience for proper interpretation. All have…”
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An unusual genotype in an Ashkenazi Jewish patient with Tay-Sachs disease by Shore, S, Tomczak, J, Grebner, E E, Myerowitz, R

“…The Ashkenazi Jewish population is enriched for carriers of a fatal form of Tay-Sachs disease, a recessive inherited disorder caused by mutations in the…”
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Prenatal diagnosis for Tay-Sachs disease using chorionic villus sampling by Grebner, E E, Jackson, L G

“…Prenatal diagnosis for Tay-Sachs disease was performed on 25 patients using chorionic villus sampling (CVS). Nineteen were diagnosed as normal, and six were…”
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Juvenile GM2 gangliosidosis (AuMB variant): inability to activate hexosaminidase A by activator protein by INUI, K, GREBNER, E. E, JACKSON, L. G, WENGER, D. A

“…Two sibling from a consanguineous Puerto Rican marriage were found to have a juvenile-onset type of lipidosis first noted at age 2 1/2 by expressing…”
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Two abnormalities of hexosaminidase A in clinically normal individuals by Grebner, E E, Mansfield, D A, Raghavan, S S, Kolodny, E H, d'Azzo, A, Neufeld, E F, Jackson, L G

“…Two abnormalities of beta-hexosaminidase A (HEX A) activity are described. One, found in two unrelated Jewish children, was characterized by the complete…”
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Prenatal diagnosis of Tay-Sachs disease: studies on the reliability of hexosaminidase levels in amniotic fluid by Grebner, E E, Jackson, L G

“…Measurement of hexosaminidase A activity in amniotic fluid was found to be a reliable diagnostic test in the prenatal diagnosis of Tay-Sachs disease. Including…”
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Prenatal diagnosis of neurolipidoses by Grebner, E E, Jackson, L G

“…While there is no single best procedure for performing prenatal diagnosis, ther is a rationale or strategy which will produce correct, reliable results. The…”
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Glycosylation of serine residues by a uridine diphosphate-xylose: protein xylosyltransferase from mouse mastocytoma by Grebner, E E, Hall, C W, Neufeld, E F

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Use of 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-beta- D-glucopyranoside for prenatal diagnosis of Tay-Sachs disease using chorionic villi by Grebner, E E, Wenger, D A

“…Prenatal diagnosis of Tay-Sachs disease was performed using the sulphated substrate 4-methylumbelliferyl-6-sulpho-2-acetamido-2-deoxy-beta-D-glucopyranoside to…”
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Human urinary N-acetyl-beta-hexosaminidases by Grebner, E E, Tucker, J

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Stimulation of a protein glycosylation reaction by lysozyme by Grebner, E E, Neufeld, E F

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Early prenatal diagnosis of mucolipidosis IV by Ornoy, A, Arnon, J, Grebner, E E, Jackson, L G, Bach, G

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

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An affinity adsorbent for N-acetyl-beta-D-hexosamindiase A by Grebner, E E, Parikh, I

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

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