Results 201 to 210 of about 8,820 (262)
Gingival Recession in Primary Maxillary Incisors due to Fingernail Scratching: A Rare Case Report. [PDF]
Case Rep DentMaalem D, Hammouti J, Ramdi H.
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P240: Back to basics: Diagnosis of Lesch-Nyhan syndrome in a female via karyotype analysis
Genetics in Medicine OpenJoseph Biddle +8 more
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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.
Claudia F. Cheatham, Larry H. Dizmang
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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.
Claudia F. Cheatham, Larry H. Dizmang
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Behavior in the Lesch-Nyhan syndrome
Journal of Autism and Childhood Schizophrenia, 1976The Lesch--Nyhan syndrome is a heritable disorder of the metabolism of uric acid in which behavioral manifestations are prominent and among the most provocative. The mutated or variant gene that determines this disorder is carried on the X chromosome. The disease is expressed exclusively in males. The molecular expression of the abnormal gene is in the
W. Nyhan
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Clinical Features of the Lesch-Nyhan Syndrome
Archives of Internal Medicine, 1972Lesch-Nyhan syndrome is characterized clinically by mental retardation, choreoathetosis, spastic cerebral palsy, and aggressive, self-mutilating behavior. It is transmitted as an X-linked excessive character in which the primary expression of the mutant gene is in the activity of the enzyme hypoxanthine guanine phosphoribosyltransferase (HGPRT ...
W. Nyhan
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[Genetic analysis of a Chinese pedigree with Lesch-Nyhan syndrome].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2023OBJECTIVE To explore the genetic etiology for a Chinese pedigree affected with Lesch-Nyhan syndrome. METHODS Members of the pedigree who had visited the Genetic Counseling Clinic of Linyi People's Hospital on February 10, 2022 were selected as the ...
Dujuan Wang +5 more
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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.
Robert H. Steadman +2 more
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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.
Robert H. Steadman +2 more
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Journal of Pediatric Rehabilitation Medicine, 2021
Lesch-Nyhan syndrome is a genetic metabolic disorder often involving dystonia and self-mutilating behavior. This case report describes a 13-year-old boy with Lesch-Nyhan syndrome and self-mutilating behavior who received botulinum toxin injections to his
C. Gilbert +2 more
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Lesch-Nyhan syndrome is a genetic metabolic disorder often involving dystonia and self-mutilating behavior. This case report describes a 13-year-old boy with Lesch-Nyhan syndrome and self-mutilating behavior who received botulinum toxin injections to his
C. Gilbert +2 more
semanticscholar +1 more source