Neonatal screening for glutaryl-CoA dehydrogenase deficiency-Reference-Cited by-同舟云学术

Neonatal screening for glutaryl-CoA dehydrogenase deficiency

Published:2004-11 Issue:6 Volume:27 Page:851-859
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Lindner M.¹,KÖlker S.¹,Schulze A.¹,Christensen E.²,Greenberg C. R.³,Hoffmann G. F.¹

Affiliation:

1. University Children's Hospital; Department of General Pediatrics, Division of Metabolic Diseases; Heidelberg Germany

2. Department of Clinical Genetics; Rigshospitalet, Copenhagen Denmark

3. ; Departments of Pediatrics and Child Health and Biochemistry and Medicxal Genetics; University of Manitoba; Winnipeg, Manitoba Canada

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000045769.96657.af/fullpdf

Reference18 articles.

1. Sensitivity of free and total glutaric and 3-hydroxyglutaric acid measurement by stable isotope dilution assays for the diagnosis of glutaric aciduria type I;Baric;JInheritMetabDis,1999

2. Glutaryl-CoA dehydrogenase de ficiency in Spain:evidence of two groups of patients, genetically, and biochemically distinct;Busquets;Pediatr Res,2000

3. The application of tandem mass spectrometry to neonatal screening for inherited disorders of intermediary metabolism;Chace;Annu Rev Genomics Hum Genet,2002

4. Use of tandem mass spectrometry for multi-analyte screening of dried blood specimens from newborns;Chace;Clin Chem,2003

5. Outcome of the first three years of a DNA-based neonatal screening program for glutaric acidemia type 1 in Manitoba and Northwestern Ontario, Canada;Greenberg;Mol Gen Metab,2002

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