Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening-Reference-Cited by-同舟云学术

Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening

Published:2003-07 Issue:1 Volume:26 Page:25-35
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Koeberl D. D.¹,Millington D. S.¹,Smith W. E.²,Weavil S. D.³,Muenzer J.⁴,McCandless S. E.⁴,Kishnani P. S.¹,McDonald M. T.¹,Chaing S.³,Boney A.¹,Moore E.⁵,Frazier D. M.⁴

Affiliation:

1. ; Division of Medical Genetics, Department of Pediatrics; Duke University Medical Center; Durham North Carolina

2. ; Barbara Bush Children's Hospital; Portland Maine

3. North Carolina State Laboratory of Public Health; Raleigh North Carolina

4. ; Division of Genetics and Metabolism, Department of Pediatrics; University of North Carolina; Chapel Hill North Carolina

5. Division of Public Health, Department of Health and Human Services; Women's and Children's Health; Raleigh North Carolina, USA

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/A:1024015227863/fullpdf

Reference26 articles.

1. Isolated biotin-resistant 3-methylcrotonyl-CoA carboxylase deficiency in two sibs;Beemer;Eur J Pediatr,1982

2. Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry;Chace;Clin Chem,1993

3. Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry;Chace;Clin Chem,1995

4. Organic Acids in Man

5. Familial hypotonia of childhood caused by isolated 3-methylcrotonyl-coenzyme A carboxylase deficiency;Elpeleg;J Pediatr,1992

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