Literature DB >> 10950248

Inborn errors of metabolism around time of birth.

J V Leonard1, A A Morris.   

Abstract

Inborn errors of metabolism commonly present around the time of birth. Although most affected babies are born healthy and subsequently deteriorate, some disorders may present at (or shortly after) birth and a few may be detected by antenatal ultrosonography. In many cases, it is important that the diagnosis is made quickly and a strategy to identify those at high risk is proposed. Treatment should not be delayed for a definitive diagnosis.

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Year:  2000        PMID: 10950248     DOI: 10.1016/s0140-6736(00)02591-5

Source DB:  PubMed          Journal:  Lancet        ISSN: 0140-6736            Impact factor:   79.321


  6 in total

Review 1.  Investigating perinatal death: a review of the options when autopsy consent is refused.

Authors:  C Wright; R E J Lee
Journal:  Arch Dis Child Fetal Neonatal Ed       Date:  2004-07       Impact factor: 5.747

2.  Proposed Plasma Ammonia Reference Intervals in a Reference Group of Hospitalized Term and Preterm Neonates.

Authors:  Theresa Madigan; Darci R Block; William A Carey; Bethany D Kaemingk; Robin Patel
Journal:  J Appl Lab Med       Date:  2020-03-01

3.  Neonatal screening of inborn errors of metabolism using tandem mass spectrometry: an evidence-based analysis.

Authors: 
Journal:  Ont Health Technol Assess Ser       Date:  2003-05-01

Review 4.  Inborn Errors of Metabolism in the Era of Untargeted Metabolomics and Lipidomics.

Authors:  Israa T Ismail; Megan R Showalter; Oliver Fiehn
Journal:  Metabolites       Date:  2019-10-21

5.  Reference Standards for Newborn Screening of Metabolic Disorders by Tandem Mass Spectrometry: A Nationwide Study on Millions of Chinese Neonatal Populations.

Authors:  Falin He; Rulai Yang; Xinwen Huang; Yaping Tian; Xiaofang Pei; Mary Kathryn Bohn; Lin Zou; Yan Wang; Haibo Li; Ting Wang; Maosheng Gu; Tao Jiang; Xigui Chen; Hui Zou; Hongwei Wei; Weibing Tian; Tian Tang; Khosrow Adeli; Zhiguo Wang
Journal:  Front Mol Biosci       Date:  2021-12-16

6.  Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.

Authors:  Ning Liu; Jing Xiao; Charul Gijavanekar; Kirk L Pappan; Kevin E Glinton; Brian J Shayota; Adam D Kennedy; Qin Sun; V Reid Sutton; Sarah H Elsea
Journal:  JAMA Netw Open       Date:  2021-07-01
  6 in total

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