E. Beutler

发表

Galactokinase deficiency and cataracts.

A. Krill, N. Levy, E. Beutler, 1972, American journal of ophthalmology.

Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.

L. Baronciani, E. Beutler, 1995, The Journal of clinical investigation.

Fabry Disease: Thirty-Five Mutations in the α-Galactosidase A Gene in Patients with Classic and Variant Phenotypes

C. Eng, R. Desnick, M. D’Souza, 1997, Molecular medicine.

G-6-PD Guadalajara. A new mutant associated with chronic nonspherocytic hemolytic anemia

J. Cantú, G. Vaca, B. Ibarra, 2004, Human Genetics.

Study of the molecular defects in pyruvate kinase deficient patients affected by nonspherocytic hemolytic anemia.

T. Lappin, D. Mahoney, A. Adekile, 1995, Blood cells, molecules & diseases.

1-Glucosidase Activity in Fibroblasts from Homozygotes and Heterozygotes for Gaucher's Disease

R. Teplitz, E. Beutler, F. Trinidad, 2006 .

Study of the molecular defects in glucose phosphate isomerase-deficient patients affected by chronic hemolytic anemia.

A. Zanella, G. Sirchia, A. Iolascon, 1996, Blood.

A novel, bedside technique to rapidly identify umbilical cord blood units with high total nucleated cell numbers

G. Baerlocher, W. Krenger, D. Surbek, 2016, Transfusion.

Human red cells protein kinase in normal subjects and patients with hereditary spherocytosis, sickle cell disease, and autoimmune hemolytic anemia.

E. Guinto, C. Johnson, E. Beutler, 1976, Blood.

The biochemical genetics of the hexosaminidase system in man.

E. Beutler, 1979, American journal of human genetics.

Variants of galactose-1-phosphate uridyl transferase in the Greek populations

G. Stamatoyannopoulos, E. Beutler, A. Thomakos, 1977, Human Genetics.

Molecular basis and enzymatic properties of glucose 6-phosphate dehydrogenase volendam, leading to chronic nonspherocytic anemia, granulocyte dysfunction, and increased susceptibility to infections.

C. V. van Noorden, T. Vulliamy, C. J. Pronk-Admiraal, 1999, Blood.

G-6-PD Jalisco and G-6-PD Morelia: Two new Mexican variants

J. Cantú, G. Vaca, C. Medina, 2004, Human Genetics.

Prenatal diagnosis of pyruvate kinase deficiency.

L. Baronciani, E. Beutler, L. Baronciani, 1994, Blood.

Erythrocyte pyruvate kinase deficiency in the Ohio Amish: origin and characterization of the mutant enzyme.

W. Muir, E. Beutler, C. Wasson, 1984, American journal of human genetics.

G-6-PD as a genetic marker.

E. Beutler, 1980, Hemoglobin.

Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.

L. Baronciani, L Baronciani, E Beutler, 1993, Proceedings of the National Academy of Sciences of the United States of America.

Six previously undescribed pyruvate kinase mutations causing enzyme deficiency.

L. Forman, K. Varughese, J. Barbot, 1998, Blood.

The designation of mutations.

E. Beutler, 1993, American journal of human genetics.

Hereditary nonspherocytic hemolytic anemia and hexokinase deficiency

P. Dyment, E. Beutler, F. Matsumoto, 1978 .