Neonatal Enzyme Replacement Started After Newborn Screening: A Case Report of Presymptomatic Treatment
DOI:
https://doi.org/10.5281/zenodo.22649517Keywords:
Neonatal Enzyme Replacement Started After Newborn Screening; Translational medicine; Evidence synthesis; Clinical implementation; Health services researchAbstract
Neonatal Enzyme Replacement Started After Newborn Screening is an area of active development in translational medicine, with
evidence that has accumulated unevenly across its component questions. We review the current evidence base for neonatal enzyme
replacement started after newborn screening, spanning analytical, clinical, implementation, governance, and economic
dimensions, focusing on where practice has converged and where it continues to vary, and set out the practical considerations
relevant to a service considering its adoption. We conclude that selective, context-specific use is best supported by the evidence
currently available, rather than uniform adoption or avoidance
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