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
in Chinese
| WPRIM
| ID: wpr-496279
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Type of study:
Diagnostic study
/
Etiology study
/
Screening study
Language:
Chinese
Journal:
Chinese Journal of Rehabilitation Theory and Practice
Year:
2016
Type:
Article
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