Inherited Metabolic Diseases Screening in Children with Developmental Retardation:97 Cases Report / 中国康复理论与实践
Chinese Journal of Rehabilitation Theory and Practice
; (12): 93-95, 2015.
Article
in Chinese
| WPRIM (Western Pacific)
| ID: wpr-462635
Responsible library:
WPRO
ABSTRACT
Objective To summarize the result of blood examination for the children with the developmental retardation and suspected inherited metabolic diseases. Methods Tandem mass spectrometry was used to detect the small molecule metabolites content of acylcarni-tine and amino acid in filter paper in 97 children from March 2010 to October 2013. Results There were 3 cases of positive (3.09%), 55 of suspicion (56.7%). Conclusion Tandem mass spectrometry is valuable to screen etiology for children with developmental retardation.
Full text:
Available
Database:
WPRIM (Western Pacific)
Type of study:
Diagnostic study
/
Screening study
Language:
Chinese
Journal:
Chinese Journal of Rehabilitation Theory and Practice
Year:
2015
Document type:
Article