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International Journal of Neonatal Screening, Volume 1, Issue 3

2015 December - 2 articles

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Review

5 Citations

8,324 Views

12 Pages

Newborn Screening for Primary Immunodeficiencies: Focus on Severe Combined Immunodeficiency (SCID) and Other Severe T-Cell Lymphopenias

Stephan Borte and
Janine Reichenbach

Int. J. Neonatal Screen.2015, 1(3), 89-100;https://doi.org/10.3390/ijns1030089

16 December 2015

Primary immunodeficiencies (PID) are congenital disorders of immune competence, which are mainly characterized by a pathological susceptibility to infection. More than 240 PID disease entities have been defined so far, accounting for a broad spectrum...

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Review

5 Citations

7,215 Views

10 Pages

Neonatal Screening for Medium-Chain Acyl-CoA Deficiency—Insights and Unexpected Challenges

Esther M. Maier

Int. J. Neonatal Screen.2015, 1(3), 79-88;https://doi.org/10.3390/ijns1030079

23 November 2015

With the implementation of tandem mass spectrometry (MS/MS), neonatal screening for medium-chain acyl-CoA dehydrogenase (MCADD) has been introduced in many screening programs worldwide. Together with phenylketonuria, MCADD is the disorder most freque...

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Int. J. Neonatal Screen. - ISSN 2409-515X

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