Neonatal screening for glutaric aciduria type I: Strategies to proceed
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-006-0284-1
Reference31 articles.
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2. Bjugstad KB, Goodman SI, Freed CR (2000) Age at symptom onset predicts severity of motor impairment and clinical outcome of glutaric academia type 1. J Pediatr 137: 681–686.
3. Busquets C, Merinero B, Christensen E, et al (2000) Glutaryl-CoA dehydrogenase deficiency in Spain: evidence of two groups of patients, genetically, and biochemically distinct. Pediatr Res 48: 315–322.
4. Chace DH, Kalas TA, Naylor EW (2002) The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism. Annu Rev Genomics Hum Genet 3: 17–45.
5. Chace DH, Kalas TA, Naylor EW (2003) Use of tandem mass spectrometry for multi-analyte screening of dried blood specimens from newborns. Clin Chem 49: 1797–1817.
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