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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Ann+Pediatr+Endocrinol+Metab
2015 ; 20
(3
): 119-24
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Screening newborns for metabolic disorders based on targeted metabolomics using
tandem mass spectrometry
#MMPMID26512346
Yoon HR
Ann Pediatr Endocrinol Metab
2015[Sep]; 20
(3
): 119-24
PMID26512346
show ga
The main purpose of newborn screening is to diagnose genetic, metabolic, and
other inherited disorders, at their earliest to start treatment before the
clinical manifestations become evident. Understanding and tracing the biochemical
data obtained from tandem mass spectrometry is vital for early diagnosis of
metabolic diseases associated with such disorders. Accordingly, it is important
to focus on the entire diagnostic process, including differential and
confirmatory diagnostic options, and the major factors that influence the results
of biochemical analysis. Compared to regular biochemical testing, this is a
complex process carried out by a medical physician specialist. It is comprised of
an integrated program requiring multidisciplinary approach such as, pediatric
specialist, expert scientist, clinical laboratory technician, and nutritionist.
Tandem mass spectrometry is a powerful tool to improve screening of newborns for
diverse metabolic diseases. It is likely to be used to analyze other treatable
disorders or significantly improve existing newborn tests to allow broad scale
and precise testing. This new era of various screening programs, new treatments,
and the availability of detection technology will prove to be beneficial for the
future generations.