Literature DB >> 19043700

Newborn screening for inborn errors of metabolism and endocrinopathies: an update.

Ralph Fingerhut1, Bernhard Olgemöller.   

Abstract

Newborn screening for inborn errors of metabolism and endocrinopathies has expanded during the last two decades, mainly owing to the introduction of new technologies such as tandem mass spectrometry and DNA analysis. However, every expansion of the screening panel requires critical review, discussion, and pilot studies. Different legal regulations and ethical concerns may lead to different decisions. Without claiming to be comprehensive, this review tries to give an overview of newborn screening, including its main problems and target diseases.

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Year:  2008        PMID: 19043700     DOI: 10.1007/s00216-008-2505-y

Source DB:  PubMed          Journal:  Anal Bioanal Chem        ISSN: 1618-2642            Impact factor:   4.142


  4 in total

1.  Neonatal screening for metabolic and endocrine disorders.

Authors:  Erik Harms; Bernhard Olgemöller
Journal:  Dtsch Arztebl Int       Date:  2011-01-10       Impact factor: 5.594

2.  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

3.  Characterization of variants of uncertain significance in isovaleryl-CoA dehydrogenase identified through newborn screening: An approach for faster analysis.

Authors:  Olivia M D'Annibale; Erik A Koppes; Ahmad N Alodaib; Catherine Kochersperger; Anuradha Karunanidhi; Al-Walid Mohsen; Jerry Vockley
Journal:  Mol Genet Metab       Date:  2021-08-30       Impact factor: 4.204

4.  One Year of Newborn Screening for SMA - Results of a German Pilot Project.

Authors:  Katharina Vill; Heike Kölbel; Oliver Schwartz; Astrid Blaschek; Bernhard Olgemöller; Erik Harms; Siegfried Burggraf; Wulf Röschinger; Jürgen Durner; Dieter Gläser; Uta Nennstiel; Brunhilde Wirth; Ulrike Schara; Beate Jensen; Marc Becker; Katharina Hohenfellner; Wolfgang Müller-Felber
Journal:  J Neuromuscul Dis       Date:  2019
  4 in total

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