Inborn errors of metabolism and expanded newborn screening: review and update
CM Mak, HCH Lee, AYW Chan… - Critical reviews in clinical …, 2013 - Taylor & Francis
… collected from high-risk screening and expanded newborn screening (NBS) programs. For
… of the different panels of IEM disorders that were screened for. History of newborn screening …
… of the different panels of IEM disorders that were screened for. History of newborn screening …
Expanded newborn screening for inborn errors of metabolism: overview and outcomes
A Sun, C Lam, DA Wong - Advances in Pediatrics, 2012 - Elsevier
… for inclusion in the newborn screening panel, including lysosomal storage disorders. Most
newborn screening reviews have focused on the history of newborn screening, a description …
newborn screening reviews have focused on the history of newborn screening, a description …
Future perspectives of newborn screening for inborn errors of immunity
M Blom, RGM Bredius, M van der Burg - … journal of neonatal screening, 2021 - mdpi.com
… Newborn screening (… screening for severe combined immunodeficiency (SCID) in their NBS
program. SCID became the first inborn error of immunity (IEI) in population-based screening …
program. SCID became the first inborn error of immunity (IEI) in population-based screening …
Newborn screening
B Wilcken, V Wiley - Pathology, 2008 - Taylor & Francis
… In this article we discuss mass newborn screening to identify certain inborn errors of
metabolism, hormonal defects and other disorders by means of blood testing performed at central …
metabolism, hormonal defects and other disorders by means of blood testing performed at central …
The role of exome sequencing in newborn screening for inborn errors of metabolism
AN Adhikari, RC Gallagher, Y Wang, RJ Currier… - Nature medicine, 2020 - nature.com
… Public health newborn screening (NBS) programs provide population-scale ascertainment …
) is currently used to screen newborns for a panel of rare inborn errors of metabolism (IEMs) 1 …
) is currently used to screen newborns for a panel of rare inborn errors of metabolism (IEMs) 1 …
Newborn screening for inborn errors of metabolism
B Wilcken, P Rinaldo, D Matern - Inborn Metabolic Diseases: Diagnosis …, 2012 - Springer
… by newborn screening, with varying degrees of certainty. This section will concentrate on
inborn errors that … Table 3.2 shows the markers detectable by newborn screening programmes, …
inborn errors that … Table 3.2 shows the markers detectable by newborn screening programmes, …
Screening newborns for inborn errors of metabolism by tandem mass spectrometry
B Wilcken, V Wiley, J Hammond… - New England Journal …, 2003 - Mass Medical Soc
… During the four years in which tandem mass spectrometry was used routinely for newborn
screening, we tested 362,000 newborns, of whom 560 (0.15 percent) required a second test or …
screening, we tested 362,000 newborns, of whom 560 (0.15 percent) required a second test or …
[HTML][HTML] Newborn screening
JJ Pitt - The Clinical Biochemist Reviews, 2010 - ncbi.nlm.nih.gov
… newborn dried blood spot samples. Phenylketonuria was the prototype disorder for newborn
screening (… Multiplex testing for approximately 25 inborn errors of metabolism using tandem …
screening (… Multiplex testing for approximately 25 inborn errors of metabolism using tandem …
The failure to diagnose inborn errors of metabolism in New Zealand: the case for expanded newborn screening
C Wilson, NJ Kerruish, B Wilcken… - The New Zealand …, 2007 - search.proquest.com
… the cases of inborn errors of metabolism … inborn errors (potentially diagnosable by newborn
screening) were diagnosed in New Zealand compared to 41 (including two prior to screening…
screening) were diagnosed in New Zealand compared to 41 (including two prior to screening…
[HTML][HTML] Newborn screening and changing face of inborn errors of metabolism in the United States
S Kanungo, DR Patel, M Neelakantan… - Annals of Translational …, 2018 - ncbi.nlm.nih.gov
… newborns each year get a diagnosis of one of the 29 core conditions included in the RUSP;
that is 1 out of every 320 newborn screened is … ; almost 10% (1,237 newborns) of these are …
that is 1 out of every 320 newborn screened is … ; almost 10% (1,237 newborns) of these are …
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