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

被引：17

作者：

Fingerhut, Ralph ^{[1
]}

Olgemoeller, Bernhard ^{[1
]}

机构：

[1] Lab Becker Olgemoller & Colleagues, D-81671 Munich, Germany

来源：

ANALYTICAL AND BIOANALYTICAL CHEMISTRY | 2009年 / 393卷 / 05期

关键词：

Newborn screening; Genetic screening; Preventive medicine; Inborn errors of metabolism; CONGENITAL ADRENAL-HYPERPLASIA; COA DEHYDROGENASE-DEFICIENCY; TANDEM MASS-SPECTROMETRY; DRIED-BLOOD SPOTS; SYRUP-URINE-DISEASE; PANCREATITIS-ASSOCIATED PROTEIN; CYSTIC-FIBROSIS; IMMUNOREACTIVE TRYPSINOGEN; GLUTARIC ACIDURIA; CYTOMEGALOVIRUS-INFECTION;

D O I：

10.1007/s00216-008-2505-y

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：1481 / 1497

页数：17

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