Results 151 to 160 of about 5,948 (186)
Lesch-Nyhan syndrome: The saga of metabolic abnormalities and self-injurious behavior. [PDF]
Intractable Rare Dis Res, 2017 Tewari N +3 more
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The Brophy Case: The Use of Artificial Hydration and Nutrition [PDF]
, 1987 Boyle, Philip +2 more
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Life Without Hope? Huntington\u27s Disease and Genetic Futurity [PDF]
, 2013 Canavan, Gerry
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Urology, 1982
Three cases of severe involvement of the kidney with calculi in patients with the Lesch-Nyhan syndrome are presented. Two patients have radiolucent uric acid calculi. The biochemistry and pathology of the Lesch-Nyhan syndrome is discussed. Mechanisms in one family is traced over five generations.
R H, Steadman, G, McIntosh, B D, Gross
+6 more sources
Three cases of severe involvement of the kidney with calculi in patients with the Lesch-Nyhan syndrome are presented. Two patients have radiolucent uric acid calculi. The biochemistry and pathology of the Lesch-Nyhan syndrome is discussed. Mechanisms in one family is traced over five generations.
R H, Steadman, G, McIntosh, B D, Gross
+6 more sources
2011
Abstract This chapter provides pictures and clinical details of LESCH-NYHAN ...
Roger E. Stevenson +2 more
+5 more sources
Abstract This chapter provides pictures and clinical details of LESCH-NYHAN ...
Roger E. Stevenson +2 more
+5 more sources
Nucleosides, Nucleotides and Nucleic Acids, 2005
Lesch-Nyhan disease is the most severe or complete phenotype of deficiency in hypoxanthineguanine phosphoribosyltransferase; other variant enzymes are found in patients without abnormality in behavior or mental development, and there are intermediate phenotypes in which enzyme activity is intermediate.
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Lesch-Nyhan disease is the most severe or complete phenotype of deficiency in hypoxanthineguanine phosphoribosyltransferase; other variant enzymes are found in patients without abnormality in behavior or mental development, and there are intermediate phenotypes in which enzyme activity is intermediate.
openaire +4 more sources
American Journal of Psychiatry, 1970
The authors report their observations of five children with the Lesch-Nyhan syndrome and review the literature to describe the general characteristics of the disorder, the development and types of self-mutilative behavior, and the types of outward-directed aggression.
L H, Dizmang, C F, Cheatham
openaire +2 more sources
The authors report their observations of five children with the Lesch-Nyhan syndrome and review the literature to describe the general characteristics of the disorder, the development and types of self-mutilative behavior, and the types of outward-directed aggression.
L H, Dizmang, C F, Cheatham
openaire +2 more sources