通过新生儿筛查确定 5q 脊髓性肌萎缩的患者护理中的综合方法和实用建议。
关键词: Latin America and Caribbean (LAC) SMN1/SMN2 Spinal Muscular Atrophy genetic tests modifying therapies newborn screening
Mesh : Humans Infant, Newborn Neonatal Screening / methods Muscular Atrophy, Spinal / diagnosis genetics therapy Brazil Genetic Testing / methods Early Diagnosis Patient Care / methods Spinal Muscular Atrophies of Childhood / diagnosis genetics therapy
来 源:
DOI:10.3390/genes15070858
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