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

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 …

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

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 …

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 …

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, …

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 …

[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 …

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

[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 …