通过新生儿 SCID 筛查早期诊断共济失调性毛细血管扩张症 : 一例病例报告强调先发制人 HSCT 的困境。
Mesh : Infant, Newborn Humans Ataxia Telangiectasia / diagnosis genetics Neonatal Screening Ataxia Telangiectasia Mutated Proteins Early Diagnosis Hematopoietic Stem Cell Transplantation Severe Combined Immunodeficiency / diagnosis
来 源: DOI:10.1007/s10875-023-01571-y