Application of liquid chromatography tandem mass spectrometry method from dry blood spots for the screening of inherited metabolic disease / 重庆医学
Chongqing Medicine
;
(36): 4252-4254, 2013.
Article
Dans Chinois
| WPRIM
| ID: wpr-440095
ABSTRACT
Objective To explore the application value of liquid chromotography tandem mass spectrometry (LC-MS/MS) in screening of inherited metabolic disease risk children ,and to provide a reference for the scientific prevention and control .Methods 246 cases of patients with inherited metabolic children blood samples were collected through the blood spots ,LC-MS/MS was used to examine blood samples from high risk cases of inherited metabolic who came from general hospital of Ningxia medical university . Results 30 cases were confirmed with inherited metabolic disease by the LC-MS/MS ,the positive rate was 12 .2% ,including 9 ca-ses of methylmalonic academia ,4 cases of isovaleric acidemia ,6 cases of phenylketonuria ,2 cases of propionic acidemia ,2 cases of citrullinemia ,1 cases of very long-chain acyl-CoA dehydrogenase ,1 cases of mitochondrial trifunctional protein deficiency ,1 cases of maple syrup urine disease ,3 cases of homocystinuria ,2 cases of argininesuccinic aciduria .Conclusion Liquid chromatography tan-dem mass spectrometry(L-MS/MS) technology is highly efficient and high reliability method in screening inherited metabolic dis-ease .
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Type d'étude:
Etude diagnostique
/
Étude de dépistage
langue:
Chinois
Texte intégral:
Chongqing Medicine
Année:
2013
Type:
Article
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