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Published in 2020 at "Medicine"
DOI: 10.1097/md.0000000000021847
Abstract: Abstract Rationale: Lesch-Nyhan syndrome (LNS) is an X-linked recessive disorder presenting with uric acid overproduction, neurocognitive disability, and behavioral disturbances. Inhalational anesthesia has been frequently used in LNS patients undergoing surgery. Characteristic compulsive self-injurious behavior…
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Keywords:
patient;
propofol anesthesia;
nyhan syndrome;
propofol ... See more keywords
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Published in 2019 at "Current Opinion in Psychiatry"
DOI: 10.1097/yco.0000000000000483
Abstract: DOI:10.1097/YCO.0000000000000483 In his presidential address to the Society of Pediatric Research in 1971, William Nyhan proposed the term ‘behavioral phenotype’ to designate self-injurious behavior that is a characteristic feature of Lesch– Nyhan syndrome. In the…
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Keywords:
nyhan syndrome;
behavioral phenotypes;
deficiency;
lesch nyhan ... See more keywords
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Published in 2018 at "BMC Pediatrics"
DOI: 10.1186/s12887-018-1197-5
Abstract: BackgroundLesch-Nyhan syndrome is a rare inborn error of purine metabolism marked by a complete deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Inherited as an X-linked recessive genetic disorder that primarily affects males, patients with Lesch-Nyhan…
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Keywords:
nyhan syndrome;
lesch nyhan;
case;
treated allopurinol ... See more keywords
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Published in 2022 at "BMC Oral Health"
DOI: 10.1186/s12903-022-02060-1
Abstract: Background Riga–Fede disease is a rare begnin disorder of the oral tissues, it can be associated with congenital anomalies and neurological disturbances. Lesch–Nyhan syndrome is a rare X-linked recessive disorder characterized by neurological and behavioral…
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Keywords:
fede disease;
riga fede;
nyhan syndrome;
lesch nyhan ... See more keywords
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Published in 2019 at "Indian Journal of Anaesthesia"
DOI: 10.4103/ija.ija_602_19
Abstract: Lesch-Nyhan (LN) syndrome, is a X-linkedrecessive-disorder affecting predominantly males, caused by deficiency of hypoxanthine-guanine-p hosphoribosyl-transferase (HGPRT) an important enzyme in the uric acid metabolism. The syndrome is characterised by self-aggression, self-mutilation, choreoathetosis and intellectual abnormalities.[1]…
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Keywords:
nyhan syndrome;
lesch nyhan;
child lesch;
management child ... See more keywords