Newborn screening for urea cycle disorders

Katie R Kerr; Marie E Westwood; Shona Kirtley; Stella O'Brien; Deborah Lane; Hayley E Jones; Penny F Whiting

doi:10.5281/zenodo.16792771

Newborn screening for urea cycle disorders

Katie R Kerr, Marie E Westwood, Shona Kirtley, Stella O'Brien, Deborah Lane, Hayley E Jones, Penny F Whiting^*

^*Corresponding author for this work

Research output: Book/Report › Commissioned report

Abstract

This document discusses the findings of an evidence map completed by the Bristol Evidence Synthesis for Screening (BESS) Group, hosted at the University of Bristol, on newborn screening for urea cycle disorders (UCDs). The evidence map was commisionned by the UK National Screening Committee (UK NSC) to assess whether a more sustained review on newborn screening for UCDs should be conducted and to evaluate the volume and type of evidence on key issues related to newborn screening for UCDs.

Original language	English
Number of pages	35
DOIs	https://doi.org/10.5281/zenodo.16792771
Publication status	Published - 1 Jun 2025

Research Groups and Themes

BESS
Evidence
screening
UK NSC
Synthesis
studies
commission

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abstract = "This document discusses the findings of an evidence map completed by the Bristol Evidence Synthesis for Screening (BESS) Group, hosted at the University of Bristol, on newborn screening for urea cycle disorders (UCDs). The evidence map was commisionned by the UK National Screening Committee (UK NSC) to assess whether a more sustained review on newborn screening for UCDs should be conducted and to evaluate the volume and type of evidence on key issues related to newborn screening for UCDs.",

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AU - Kerr, Katie R

AU - Westwood, Marie E

AU - Kirtley, Shona

AU - O'Brien, Stella

AU - Lane, Deborah

AU - Jones, Hayley E

AU - Whiting, Penny F

PY - 2025/6/1

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AB - This document discusses the findings of an evidence map completed by the Bristol Evidence Synthesis for Screening (BESS) Group, hosted at the University of Bristol, on newborn screening for urea cycle disorders (UCDs). The evidence map was commisionned by the UK National Screening Committee (UK NSC) to assess whether a more sustained review on newborn screening for UCDs should be conducted and to evaluate the volume and type of evidence on key issues related to newborn screening for UCDs.

U2 - 10.5281/zenodo.16792771

DO - 10.5281/zenodo.16792771

M3 - Commissioned report

BT - Newborn screening for urea cycle disorders

ER -

Newborn screening for urea cycle disorders

Abstract

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