title: Newborn screening for inborn errors of metabolism and endocrinopathies: an update.
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.
authors.affiliation: Laboratory Becker, Olgemöller & Colleagues, Führichstr. 70, 81671, Munich, Germany. ralph.fingerhut@kispi.uzh.ch
authors.forename: Ralph
authors.initials: R
authors.lastname: Fingerhut
authors.forename: Bernhard
authors.initials: B
authors.lastname: Olgemöller
mesh_terms: D004700:Endocrine System Diseases / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy; D006801:Humans; D007231:Infant, Newborn; D008661:Metabolism, Inborn Errors / Q000175:diagnosis / Q000453:epidemiology / Q000628:therapy; D015997:Neonatal Screening