Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes | Zendy

Willemijn J. van Rijt | Zendy; Geneviève D. Koolhaas | Zendy; Jolita Bekhof | Zendy; M. Rebecca Fokkema | Zendy; Tom J. de Koning | Zendy; Gepke Visser | Zendy; Peter C. J. I. Schielen | Zendy; Francjan J. van Spronsen | Zendy; Terry G. J. Derks | Zendy

Open Access

Inborn Errors of Metabolism That Cause Sudden Infant Death: A Systematic Review with Implications for Population Neonatal Screening Programmes

Author(s) -

Willemijn J. van Rijt,

Geneviève D. Koolhaas,

Jolita Bekhof,

M. Rebecca Fokkema,

Tom J. de Koning,

Gepke Visser,

Peter C. J. I. Schielen,

Francjan J. van Spronsen,

Terry G. J. Derks

Publication year - 2016

Publication title -

neonatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.399

H-Index - 84

eISSN - 1661-7819

pISSN - 1661-7800

DOI - 10.1159/000443874

Subject(s) - newborn screening , medicine , population , pediatrics , environmental health

Many inborn errors of metabolism (IEMs) may present as sudden infant death (SID). Nowadays, increasing numbers of patients with IEMs are identified pre-symptomatically by population neonatal bloodspot screening (NBS) programmes. However, some patients escape early detection because their symptoms and signs start before NBS test results become available, they even die even before the sample for NBS has been drawn or because there are IEMs which are not included in the NBS programmes.

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