Kits novedosos para la detección de trastornos del ciclo de la urea usando espectrometría de masas

The present invention relates to methods and kits for high throughput screening and analysis of metabolic disorders using liquid chromatography mass spectrometry (LC-MS) are provided. The metabolic disorders can be amino acid, organic acid or fatty acid oxidation disorders, and particularly urea cyc...

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Bibliographische Detailangaben
Hauptverfasser:	FINGERHUT, Ralph, CARRARD, Géraldine
Format:	Patent
Sprache:	spa
Schlagworte:	INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES MEASURING PHYSICS TESTING
Online-Zugang:	Volltext bestellen
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Beschreibung
Zusammenfassung:	The present invention relates to methods and kits for high throughput screening and analysis of metabolic disorders using liquid chromatography mass spectrometry (LC-MS) are provided. The metabolic disorders can be amino acid, organic acid or fatty acid oxidation disorders, and particularly urea cycle disorders or defiencies, hyperammoneamia, Hyperornithinemia-hyperammonenia-homocitrullinuria (HHH), and/or argininosuccinic aciduria. The methods and kits are particularly useful for newborn screening (NBS) of metabolic disorders.