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

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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Hauptverfasser: FINGERHUT, Ralph, CARRARD, Géraldine
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INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES
MEASURING
PHYSICS
TESTING
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creator FINGERHUT, Ralph
CARRARD, Géraldine
description 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.
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subjects INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIRCHEMICAL OR PHYSICAL PROPERTIES
MEASURING
PHYSICS
TESTING
title Kits novedosos para la detección de trastornos del ciclo de la urea usando espectrometría de masas
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