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MALADIE LESCH-NYHAN [1 record]
Record 1 - internal organization data 2004-11-30
Record 1, English
Record 1, Subject field(s)
- Nervous System
Record 1, Main entry term, English
- Lesch-Nyhan syndrome
1, record 1, English, Lesch%2DNyhan%20syndrome
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
Hereditary metabolic disorder affecting the central nervous system and characterized by incoordination, mental retardation, aggressive behaviour, and compulsive biting. The cause of the syndrome is a defective organic catalyst or enzyme, hypoxanthine - guanine - phosphoribosyl transferase, which normally is particularly active in brain cells and is involved in the metabolism of purines. 1, record 1, English, - Lesch%2DNyhan%20syndrome
Record number: 1, Textual support number: 1 OBS
Lesch-Nyhan syndrome is transmitted by a recessive sex-linked gene and generally affects males. 2, record 1, English, - Lesch%2DNyhan%20syndrome
Record 1, French
Record 1, Domaine(s)
- Système nerveux
Record 1, Main entry term, French
- syndrome de Lesch-Nyhan
1, record 1, French, syndrome%20de%20Lesch%2DNyhan
correct, masculine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- hyperuricémie congénitale 1, record 1, French, hyperuric%C3%A9mie%20cong%C3%A9nitale
correct, feminine noun
- encéphalopathie hyperuricémique 1, record 1, French, enc%C3%A9phalopathie%20hyperuric%C3%A9mique
correct, feminine noun
- maladie de Lesch-Nyhan 2, record 1, French, maladie%20de%20Lesch%2DNyhan
feminine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 OBS
Le syndrome est causé par une absence d'enzyme : l'hypoxanthine - guanine - phospho - ribosyl - transférase. 2, record 1, French, - syndrome%20de%20Lesch%2DNyhan
Record 1, Spanish
Record 1, Campo(s) temático(s)
- Sistema nervioso
Record 1, Main entry term, Spanish
- síndrome de Lesch-Nyhan
1, record 1, Spanish, s%C3%ADndrome%20de%20Lesch%2DNyhan
correct, masculine noun
Record 1, Abbreviations, Spanish
Record 1, Synonyms, Spanish
Record 1, Textual support, Spanish
Record number: 1, Textual support number: 1 CONT
El síndrome de Lesch-Nyhan es una enfermedad metabólica hereditaria caracterizada por la carencia total de la HPRT (hidroxantina fosforibosil transferasa), enzima que cataliza la conversión de la hipoxantina a inosina-5-monofosfato. 1, record 1, Spanish, - s%C3%ADndrome%20de%20Lesch%2DNyhan
Record number: 1, Textual support number: 1 OBS
La enfermedad se caracteriza por hiperuricemia y gota en niños varones. 1, record 1, Spanish, - s%C3%ADndrome%20de%20Lesch%2DNyhan
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