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Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics, 2022
OBJECTIVE To carry out genetic testing and prenatal diagnosis for a Chinese pedigree with Lesch-Nyhan syndrome (LNS) but no specimen from the affected probands.
Ming Tong +4 more
semanticscholar +1 more source
OBJECTIVE To carry out genetic testing and prenatal diagnosis for a Chinese pedigree with Lesch-Nyhan syndrome (LNS) but no specimen from the affected probands.
Ming Tong +4 more
semanticscholar +1 more source
Cerebral Venous Sinus Thrombosis in a Child with Lesch–Nyhan Syndrome
Neurology India, 2021Lesch–Nyhan syndrome is a rare neurometabolic condition characterized by progressive choreoathetosis, intellectual disability, and peculiar manifestations like self-mutilation. Occasional case reports in adults have suggested an association between Lesch–
R. Manokaran +5 more
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Neuromodulation (Malden, Mass.), 2020
Lesch–Nyhan syndrome (LNS) is a rare genetic disorder characterized by a deficiency of hypoxanthine‐guanine phosphoribosyltransferase enzyme. It manifests during infancy with compulsive self‐mutilation behavior associated with disabling generalized ...
K. Tambirajoo +7 more
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Lesch–Nyhan syndrome (LNS) is a rare genetic disorder characterized by a deficiency of hypoxanthine‐guanine phosphoribosyltransferase enzyme. It manifests during infancy with compulsive self‐mutilation behavior associated with disabling generalized ...
K. Tambirajoo +7 more
semanticscholar +1 more source
Disassembly of microtubules in the lesch-nyhan syndrome? [PDF]
Klinische Wochenschrift, 1979 The Lesch-Nyhan syndrome is an unusual disease. It combines neurological disorders, behavioural disturbances, metabolic changes and haematological symptoms. The syndrome is caused by an X-chromosomal transmitted enzyme deficiency of the 'salvage pathway' in purine metabolism.
E. Morgenstern +2 more
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GROWTH RETARDATION IN THE LESCH-NYHAN SYNDROME [PDF]
Acta Endocrinologica, 1974 ABSTRACT The Lesch-Nyhan syndrome is an inherited neurologic disorder due to deficiency of hypoxanthine-guanine phosphoribosyl transferase and characterized clinically by self-mutilation, choreoathetosis, spasticity and mental retardation. This study demonstrates that these patients have significant growth retardation similar to that observed ...
Francis A. Neelon +4 more
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Lesch‐Nyhan syndrome in a girl
Journal of Inherited Metabolic Disease, 1992Lesch-Nyhan syndrome (McKusick 308000) is characterized by hyperuricaemia, choreoathetosis, spasticity, mental retardation, and self-mutilation. This disorder results from a complete deficiency of hypoxanthine phosphoribosyltransferase (HPRT), an enzyme encoded by a single gene on the X chromosome (Xq26-q27) (Stout and Caskey 1989), and has already ...
Van Bogaert, Patrick +5 more
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Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome.
New England Journal of Medicine, 1981Different brain regions were removed post mortem from three patients with the Lesch-Nyhan syndrome and were examined for alterations in hypoxanthine-guanine phosphoribosyl transferase (HGPRT), adenine phosphoribosyl transferase, and biochemical indexes ...
K. Lloyd +8 more
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Lesch-Nyhan syndrome: A treatment planning dilemma
CLINICAL DENTISTRY, 2022Lesch-Nyhan syndrome (LNS), is a rare inborn error of metabolism. It is characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males.
A. Ram, Akhila Ansari, F. Peedikayil
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Oral Surgery, Oral Medicine, Oral Pathology, 1994
Lesch-Nyhan syndrome is a rare anomaly consisting of a deficiency in the production of hypoxanthine phosphoribosyltransferase that leads to the overproduction of purine and the accumulation of uric acid. Major manifestations include mental retardation and self-destructive behavior resulting in self-mutilation through biting and scratching.
Michael Fedele +2 more
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Lesch-Nyhan syndrome is a rare anomaly consisting of a deficiency in the production of hypoxanthine phosphoribosyltransferase that leads to the overproduction of purine and the accumulation of uric acid. Major manifestations include mental retardation and self-destructive behavior resulting in self-mutilation through biting and scratching.
Michael Fedele +2 more
openaire +2 more sources
COGNITIVE FUNCTIONING IN LESCH‐NYHAN SYNDROME
Developmental Medicine & Child Neurology, 1995SUMMARYThe present study represents the first effort to assess systematically the cognitive functioning of a population of individuals with Lesch‐Nyhan syndrome using standardized psychometric instruments. Seven residents from a special hospital setting participated. They ranged in age from 10 years 1 month to 22 years 3 months (mean 13 years 7 months).
Gabor Barabas +2 more
openaire +3 more sources