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


Fingerhut, R; Olgemöller, B (2009). Newborn screening for inborn errors of metabolism and endocrinopathies: an update. Analytical and Bioanalytical Chemistry, 393(5):1481-1497.

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.

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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Additional indexing

Item Type:Journal Article, refereed, further contribution
Communities & Collections:04 Faculty of Medicine > University Children's Hospital Zurich > Medical Clinic
Dewey Decimal Classification:610 Medicine & health
Language:English
Date:2009
Deposited On:03 Feb 2010 11:51
Last Modified:17 Feb 2018 23:59
Publisher:Springer
ISSN:1618-2642
Additional Information:The original publication is available at www.springerlink.com
OA Status:Closed
Publisher DOI:https://doi.org/10.1007/s00216-008-2505-y
PubMed ID:19043700

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