Newborn screening for X-linked adrenoleukodystrophy in Italy: Diagnostic algorithm and disease monitoring.
Frontiers in neurology(2022)
摘要
The study was approved by the local ethics committee. The research was conducted in the absence of any commercial or financial relationship that could be construed as a potential conflict of interest.
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关键词
Aicardi-Goutières syndrome (AGS),C26:0-lysophosphatidylcholine,DBS,X-ALD,X-linked adrenoleukodystrophy (X-ALD),Zellweger Spectrum Disorders,hematopoietic stem cell transplantation (HCST),newborn screening (NBS)
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