Screening of Urinary Organic Acid in Children with High Risk of Inherited Metabolic Diseases / 中国康复理论与实践
Chinese Journal of Rehabilitation Theory and Practice
; (12): 947-951, 2016.
Article
de Zh
| WPRIM
| ID: wpr-496279
Bibliothèque responsable:
WPRO
ABSTRACT
Objective To explore the application of gas chromatography mass spectrometry (GC/MS) in children with high risk of inher-ited metabolic disease. Methods From March, 2010 to November, 2015, 119 children suspected with inherited metabolic disease were in-cluded. The urinary organic acid was detected with GC/MS, and related diseases were screened. Results Seventeen children (14.29%) were positive with inherited metabolic disease, in which 16 cases (94.12%) manifested with development retardation. 20 children (16.81%) were probable positive. Conclusion GC/MS is effective in screening children with high risk of inherited metabolic disease, which can provide ba-sis for further diagnosis.
Texte intégral:
1
Indice:
WPRIM
Type d'étude:
Diagnostic_studies
/
Etiology_studies
/
Screening_studies
langue:
Zh
Texte intégral:
Chinese Journal of Rehabilitation Theory and Practice
Année:
2016
Type:
Article