Capillary electrophoresis for screening of adenylosuccinate lyase deficiency

We report a new screening method for adenylosuccinate lyase (ASase) deficiency using capillary electrophoresis (CE). This enzyme defect causes secondary autism and psychomotor retardation in early childhood. In all body fluids of these patients, two succinylpurine metabolites can be found that are n...

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Veröffentlicht in:	Electrophoresis 1995, Vol.16 (1), p.1927-1929
Hauptverfasser:	Gross, Manfred, Gathof, Birgit S., Kölle, Pirkko, Gresser, Ursula
Format:	Artikel
Sprache:	eng
Schlagworte:	Adenosine - analogs & derivatives Adenosine - analysis Adenosine - urine Adenylosuccinate Lyase - deficiency Aminoimidazole Carboxamide - analogs & derivatives Aminoimidazole Carboxamide - analysis Aminoimidazole Carboxamide - urine Autism Body Fluids - chemistry Capillary electrophoresis Electrophoresis, Capillary - methods Humans Psychomotor retardation Ribonucleosides - analysis Ribonucleosides - urine Spectrophotometry, Ultraviolet
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