Literature DB >> 12204433

The changing face of newborn screening: diagnosis of inborn errors of metabolism by tandem mass spectrometry.

Patricia M Jones1, Michael J Bennett.   

Abstract

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Year:  2002        PMID： 12204433     DOI： 10.1016/s0009-8981(02)00238-3

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  11 in total

1.  An improved LC-MS/MS method for the detection of classic and low excretor glutaric acidemia type 1.

Authors:  Tereza Moore; Anthony Le; Tina M Cowan
Journal:  J Inherit Metab Dis       Date:  2011-10-18       Impact factor: 4.982

2.  Impact of inborn errors of metabolism on admission in a neonatal intensive care unit--a prospective cohort study.

Authors:  Wenjun Tu; Jian He; Fang Dai; Xinyu Wang; Ying Li
Journal:  Indian J Pediatr       Date:  2011-06-10       Impact factor: 1.967

3.  The national Austrian newborn screening program - eight years experience with mass spectrometry. past, present, and future goals.

Authors:  David C Kasper; Rene Ratschmann; Thomas F Metz; Thomas P Mechtler; Dorothea Möslinger; Vassiliki Konstantopoulou; Chike B Item; Arnold Pollak; Kurt R Herkner
Journal:  Wien Klin Wochenschr       Date:  2010-10-15       Impact factor: 1.704

Review 4.  Metabolomics-based methods for early disease diagnostics.

Authors:  G A Nagana Gowda; Shucha Zhang; Haiwei Gu; Vincent Asiago; Narasimhamurthy Shanaiah; Daniel Raftery
Journal:  Expert Rev Mol Diagn       Date:  2008-09       Impact factor: 5.225

5.  Biomarker Discovery and Translation in Metabolomics.

Authors:  G A Nagana Gowda; D Raftery
Journal:  Curr Metabolomics       Date:  2013

6.  "Family matters": a conceptual framework for genetic testing in children.

Authors:  Allyn McConkie-Rosell; Gail A Spiridigliozzi
Journal:  J Genet Couns       Date:  2004-02       Impact factor: 2.537

7.  Screening criteria: the need to deal with new developments and ethical issues in newborn metabolic screening.

Authors:  John Forman; Fiona Coyle; Jill Levy-Fisch; Pat Roberts; Sharon Terry; Michael Legge
Journal:  J Community Genet       Date:  2012-10-07

8.  Metabolomics enables precision medicine: "A White Paper, Community Perspective".

Authors:  Richard D Beger; Warwick Dunn; Michael A Schmidt; Steven S Gross; Jennifer A Kirwan; Marta Cascante; Lorraine Brennan; David S Wishart; Matej Oresic; Thomas Hankemeier; David I Broadhurst; Andrew N Lane; Karsten Suhre; Gabi Kastenmüller; Susan J Sumner; Ines Thiele; Oliver Fiehn; Rima Kaddurah-Daouk
Journal:  Metabolomics       Date:  2016-09-02       Impact factor: 4.290

9.  Age-Related Reference Intervals for Blood Amino Acids in Thai Pediatric Population Measured by Liquid Chromatography Tandem Mass Spectrometry.

Authors:  Jaraspong Uaariyapanichkul; Sirinuch Chomtho; Kanya Suphapeetiporn; Vorasuk Shotelersuk; Santi Punnahitananda; Pannee Chinjarernpan; Orapa Suteerojntrakool
Journal:  J Nutr Metab       Date:  2018-05-06

10.  Fatal pitfalls in newborn screening for mitochondrial trifunctional protein (MTP)/long-chain 3-Hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency.

Authors:  Amelie S Lotz-Havla; Wulf Röschinger; Katharina Schiergens; Katharina Singer; Daniela Karall; Vassiliki Konstantopoulou; Saskia B Wortmann; Esther M Maier
Journal:  Orphanet J Rare Dis       Date:  2018-07-20       Impact factor: 4.123
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