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Screening for inborn errors of metabolism in high-risk children: a 3-year pilot study in Zhejiang Province, China.
- Source :
- BMC Pediatrics; 2012, Vol. 12 Issue 1, p18-23, 7p, 4 Charts
- Publication Year :
- 2012
-
Abstract
- The article offers information on a research conducted on inborn errors of metabolism(IEM) in Chinese children who had symptoms. It states that among 11,060 symptomatic patients, 62 were diagnosed with IEM, and 43.5 percent had aminoacidemias, 41.9 percent had organic acidemias and nine had fatty acid oxidation disorders. If diagnosed at an older age, mental retardation and motor delay are difficult to reverse, so extensive newborn screening is required for early diagnosis and treatment.
Details
- Language :
- English
- ISSN :
- 14712431
- Volume :
- 12
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- BMC Pediatrics
- Publication Type :
- Academic Journal
- Accession number :
- 74100956
- Full Text :
- https://doi.org/10.1186/1471-2431-12-18