نتایج جستجو برای: lesch

تعداد نتایج: 4630  

2014
Giulia Ragazzini Alessia Delucchi Enrico Calcagno Roberto Servetto Gloria Denotti

Lesch-Nyhan syndrome, described in 1964 by Lesch and Nyhan, is a X-linked recessive disorder, occurring in 1 : 100000 to 1 : 380000 live births. LNS is characterized by a decrease in activity of hypoxanthine guanine phosphoribosyl transferase, an enzyme involved in purine metabolism, resulting in overproduction of uric acid. Hyperuricemia and neurological features including choreoathetoid spast...

Journal: :Philosophical transactions of the Royal Society of London. Series B, Biological sciences 2012
Klaus-Peter Lesch Naozumi Araragi Jonas Waider Daniel van den Hove Lise Gutknecht

Aggression, which comprises multi-faceted traits ranging from negative emotionality to antisocial behaviour, is influenced by an interaction of biological, psychological and social variables. Failure in social adjustment, aggressiveness and violence represent the most detrimental long-term outcome of neurodevelopmental disorders. With the exception of brain-specific tryptophan hydroxylase-2 (Tp...

Journal: :The Journal of biological chemistry 1971
W N Kelley J C Meade

The Lesch-Nyhan syndrome has been characterized by an apparently complete deficiency in erythrocytes of an enzyme of purine metabolism, hypoxanthine-guanine phosphoribosyltransferase. Recent studies have suggested that low levels of this enzyme may be present in skin fibroblasts cultured from these patients. In the present study, we have confirmed the presence of hypoxanthine-guanine phosphorib...

2010
Benjamin Vyssoki Petra Steindl-Munda Peter Ferenci Henriette Walter Peter Höfer Victor Blüml Fabian Friedrich Dagmar Kogoj Otto M. Lesch

Aims: To assess the clinical and biological status of alcohol-dependent patients admitted to a psychiatric or a gastroenterological ward, assessing and comparing dimensions important for prescribing treatment for withdrawal and relapse prevention. Methods: Eighty patients, alcohol-dependent according to international classification of diseases tenth revision and diagnostic and statistical manua...

Journal: :Alcohol and alcoholism 2010
Benjamin Vyssoki Petra Steindl-Munda Peter Ferenci Henriette Walter Peter Höfer Victor Blüml Fabian Friedrich Dagmar Kogoj Otto M Lesch

AIMS To assess the clinical and biological status of alcohol-dependent patients admitted to a psychiatric or a gastroenterological ward, assessing and comparing dimensions important for prescribing treatment for withdrawal and relapse prevention. METHODS Eighty patients, alcohol-dependent according to international classification of diseases tenth revision and diagnostic and statistical manua...

2003
JEAN C. MEADE

The Lesch-Nyhan syndrome has been characterized by an apparently complete deficiency in erythrocytes of an enzyme of purine metabolism, hypoxanthine-guanine phosphoribosyltransferase. Recent studies have suggested that low levels of this enzyme may be present in skin fibroblasts cultured from these patients. In the present study, we have confirmed the presence of hypoxanthine-guanine phosphorib...

Journal: :Developmental Medicine & Child Neurology 2007

Journal: :The Tohoku Journal of Experimental Medicine 1988

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