Search Results - "Westwood, Beryl"

Three new exon 10 glucose-6-phosphate dehydrogenase mutations by Beutler, E, Westwood, B, Melemed, A, Dal Borgo, P, Margolis, D

“…Three previously undescribed mutations of the glucose-6-phosphate dehydrogenase (G6PD) gene have been documented in patients with hereditary non-spherocytic…”
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Glucose-6 Phosphate Dehydrogenase Mutations and Haplotypes in Various Ethnic Groups by Xu, Weiming, Westwood, Beryl, Bartsocas, Christos S., Malcorra-Azpiazu, J.J., Indrik, Karel, Beutler, Ernest

“…Mutations that produce glucose-6-phosphate dehydrogenase (G6PD) deficiency have been identified in samples from patients with hemolytic disease in the United…”
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The Relationship of the −5, −8, and −24 Variant Alleles in African Americans to Triosephosphate Isomerase (TPI) Enzyme Activity and to TPI Deficiency by Schneider, Arthur, Forman, Linda, Westwood, Beryl, Yim, Catherine, Lin, James, Singh, Satinder, Beutler, Ernest

“…In 424 African-American and 75 white subjects, we found that the −5 (TPI 592 A→G), −8 (TPI 589 G→A), and −24 (TPI 573 T→G) variants in the triosephosphate…”
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The relationship of the -5, -8, and -24 variant alleles in African Americans to triosephosphate isomerase (TPI) enzyme activity and to TPI deficiency by SCHNEIDER, A, FORMAN, L, WESTWOOD, B, YIM, C, LIN, J, SINGH, S, BEUTLER, E

“…In 424 African-American and 75 white subjects, we found that the -5 (TPI 592 A-->G), -8 (TPI 589 G-->A), and -24 (TPI 573 T-->G) variants in the…”
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G6PD Mount Sinai: A new severe hemolytic variant characterized by dual mutations at nucleotides 376G and 1159T (N126D) by Vlachos, Adrianna, Westwood, Beryl, Lipton, Jeffrey M., Beutler, Ernest

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G→T transition at cDNA nt 110 (K37Q) in the PKLR (pyruvate kinase) gene is the molecular basis of a case of hereditary increase of red blood cell ATP by Beutler, Ernest, Westwood, Beryl, van Zwieten, R, Roos, Dirk

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Molecular Cloning and Nucleotide Sequence of Human Glucocerebrosidase cDNA by Sorge, Joseph, West, Carol, Westwood, Beryl, Beutler, Ernest

“…Mutations in the human glucocerebrosidase gene cause Gaucher disease. A cDNA clone containing the entire human glucocerebrosidase coding region from normal…”
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A new polymorphic site in the G6PD gene by Beutler, E, Westwood, B, Sipe, B

“…A polymorphic restriction site has been found in intron 11 of the gene for glucose-6-phosphate dehydrogenase (G6PD). This site is produced by a T---C…”
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Frequency of glucose-6-phosphate dehydrogenase (G6PD) mutations in Chinese, Filipinos, and Laotians from Hawaii by HSIA, Y. E, MIYAKAWA, F, BALTAZAR, J, CHING, N. S. P, YUEN, J, WESTWOOD, B, BEUTLER, E

“…In a Hawaii Hereditary Anemia Screening Project, 4,984 participants were tested for glucose-6-phosphate dehydrogenase (G6PD) deficiency by a filter paper blood…”
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Molecular Genetics of Glucose-6-Phosphate Dehydrogenase Deficiency in Mexico by Medina, Maria Dolores, Vaca, Gerardo, Lopez-Guido, Beatriz, Westwood, Beryl, Beutler, Ernest

“…Several studies carried out between 1965 and 1985 showed that G-6-PD deficiency in Mexico is heterogeneous at the biochemical level and that the G-6-PD A-…”
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Glucose-6-phosphate dehydrogenase Durham: A de novo mutation associated with chronic hemolytic anemia by Zimmerman, Sherri A., Ware, Russell E., Forman, Linda, Westwood, Beryl, Beutler, Ernest

“…Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common X-linked enzyme defect. We report a new variant, G6PD Durham 713G , that is associated with…”
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Triosephosphate isomerase deficiency: repetitive occurrence of point mutation in amino acid 104 in multiple apparently unrelated families by Schneider, A, Westwood, B, Yim, C, Prchal, J, Berkow, R, Labotka, R, Warrier, R, Beutler, E

“…The molecular basis of triosephosphate isomerase (TPI) deficiency was studied in 3 patients from three separate families. In all 3 patients, genomic DNA…”
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Definition of the mutations of G6PD Wayne, G6PD Viangchan, G6PD Jammu, and G6PD 'LeJeune' by Beutler, E, Westwood, B, Kuhl, W

“…We report the nucleotide (nt) substitutions of four unrelated glucose-6-phosphate dehydrogenase (G6PD)-deficient males. Only the mutation of G6PD Wayne was…”
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The 1591C Mutation in Triosephosphate Isomerase (TPI) Deficiency. Tightly Linked Polymorphisms and a Common Haplotype in All Known Families by Schneider, Arthur, Westwood, Beryl, Yim, Catherine, Cohen-Solal, Michel, Rosa, Raymonde, Labotka, Richard, Eber, Stefan, Wolf, Raoul, Lammi, Ahti, Beutler, Ernest

“…ABSTRACT In order to investigate the basis of the repeated occurrence of the 1591C mutation (TPI 1591C, 105 Glu–Asp) in multiple unrelated families throughout…”
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Molecular Characterization of Glucose-6-Phosphate Dehydrogenase Variants from Brazil by WEIMER, TANIA A., SALZANO, FRANCISCO M., WESTWOOD, BERYL, BEUTLER, ERNEST

“…Electrophoretic surveys of 7794 individuals from different regions of Brazil and a study of subjects with hemolytic anemia have disclosed 9 putative G6PD…”
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The effect of phlebotomy as a treatment of Fabry disease by Beutler, E, Westwood, B, Dale, G L

“…Senescent erythrocytes are considered a major source of the ceramide trihexoside which accumulates in Fabry disease patients. We have evaluated weekly…”
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