Word: nyhan
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...birth per 100,000. In all cases the genes have already been isolated and extensively studied. What is more, biologists hope that for at least two of the disorders, only a tiny amount of the enzyme need be produced to alleviate the worst symptoms. The & likeliest candidates: Lesch-Nyhan syndrome; adenosine deaminase deficiency, an immune disorder of the type that killed the famous "Bubble Boy"; and purine nucleoside phosphorylase deficiency, another illness of the immune system. As investigators learn ever more about gene regulation, however, they may tackle ever more complicated hereditary diseases, including sickle-cell anemia, diabetes and even...
...Giaquinto lf 4 0 1 0 Murphy rf 4 0 0 0 Daley 1b 2 0 0 0 Iandoli 1b> 1 0 0 0 Hill cf 4 0 1 0 Simoes 3b 2 0 0 0 Berstka 3b 2 0 0 0 Flynn ss 2 0 0 0 Nyhan ss 1 0 0 0 Schwgmn c 1 0 0 0 Russo c 1 0 0 0 Sliney 2b 3 0 0 0 Total...
...William Nyhan of the University of California at San Diego and Roger Rosenberg of the University of Texas Southwestern Medical School in Dallas met with nearly 100 of Joseph's surviving relatives. They were able to assure those whose parents had escaped the disease that they ran no risk of developing-or passing on-the family ailment. But ten were found to have the disease, and 26 others-children of parents who have or had Joseph illness-may develop...
...eight children, four inherited his ailment, including one daughter who passed it on to seven of her nine children. Last month the N.G.F. staged a reunion in South Dakota for 95 of Vandenberg's descendants, who came from five states and Argentina. On hand were Drs. William Nyhan and Roger Rosenberg of the University of California School of Medicine at San Diego, plus Dr. Lawrence Schut, a Minneapolis neurologist who is one of the unaffected members of the Swier family. With the family's permission, a crew from WCCO-TV of Minneapolis, Minn., flew in to film...
...Family. By now, 80 victims of the Lesch-Nyhan syndrome have been identified. Very few have survived beyond puberty; most are in institutions. All are boys, indicating that the enzyme defect is transmitted, like hemophilia, through the mother on an X chromosome, although she appears unaffected. Researchers at the National Institute of Arthritis and Metabolic Diseases checked to see whether the same enzyme deficiency could explain typical adult gout. It does in only a few cases, they reported last week. In one family, two gout victims have only about 1% of the normal PRT; in another family, it is about...