Taylor Jennifer L, Lee Stacey
research public health analyst, Center for Newborn Screening, Ethics, and Disability Studies, RTI International, Research Triangle Park, North Carolina
laboratory scientist, Center for Newborn Screening, Ethics, and Disability Studies, RTI International, Research Triangle Park, North Carolina.
N C Med J. 2019 Jan-Feb;80(1):54-58. doi: 10.18043/ncm.80.1.54.
This commentary discusses the importance of conducting newborn screening pilot studies in North Carolina and the lessons learned from performing three pilots for severe combined immunodeficiency (SCID), mucopolysaccharidosis type I (MPS I), and X-linked adrenoleukodystrophy (X-ALD).
本评论讨论了在北卡罗来纳州开展新生儿筛查试点研究的重要性,以及从针对重症联合免疫缺陷(SCID)、I型黏多糖贮积症(MPS I)和X连锁肾上腺脑白质营养不良(X-ALD)进行的三项试点研究中吸取的经验教训。