Document Detail

Glutaric aciduria type 2 and newborn screening: commentary.
MedLine Citation:
PMID:  17988913     Owner:  NLM     Status:  MEDLINE    
Glutaric aciduria type 2 is increasingly being identified through expanded newborn screening programs by tandem mass spectrometry with a goal of decreasing morbidity and mortality. This article presents 3 patients with adverse outcomes in spite of early recognition by newborn screening. Additional long term studies are necessary to determine the efficacy of newborn screening to affect outcome in this disorder.
Jerry Vockley
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Publication Detail:
Type:  Comment; Journal Article     Date:  2007-11-07
Journal Detail:
Title:  Molecular genetics and metabolism     Volume:  93     ISSN:  1096-7192     ISO Abbreviation:  Mol. Genet. Metab.     Publication Date:  2008 Jan 
Date Detail:
Created Date:  2007-12-17     Completed Date:  2008-04-10     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  9805456     Medline TA:  Mol Genet Metab     Country:  United States    
Other Details:
Languages:  eng     Pagination:  5-6     Citation Subset:  IM    
University of Pittsburgh, School of Medicine and Graduate School of Public Health, Departments of Pediatrics and Human Genetics, Children's Hospital of Pittsburgh, 3705 Fifth Avenue, Pittsburgh, PA 15238, USA.
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MeSH Terms
Genetic Testing / methods
Infant, Newborn
Multiple Acyl Coenzyme A Dehydrogenase Deficiency / complications,  diagnosis*,  genetics
Neonatal Screening / methods*
Comment On:
Mol Genet Metab. 2008 Jan;93(1):36-9   [PMID:  17977044 ]

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