采用骨髓移植治疗的症状前晚期婴儿型异染性脑白质营养不良。
Presymptomatic late-infantile metachromatic leukodystrophy treated with bone marrow transplantation.
作者信息
Pridjian G, Humbert J, Willis J, Shapira E
机构信息
Human Genetics Program, Tulane University Medical School, New Orelans, Louisiana.
出版信息
J Pediatr. 1994 Nov;125(5 Pt 1):755-8. doi: 10.1016/s0022-3476(94)70072-9.
PMID:7965430
Abstract
At 8 months of age, before clinical neurologic deterioration, the younger of two sisters with metachromatic leukodystrophy received a transplant of bone marrow from her haploidentical, heterozygote mother. Compared with the course in the older, affected, untreated sibling, the onset of neurologic regression was delayed 1 year and progressed at a slower rate.
摘要
在8个月大时，在临床神经功能恶化之前，患有异染性脑白质营养不良的两姐妹中较小的那个接受了来自其单倍体相合的杂合子母亲的骨髓移植。与年龄较大、患病且未接受治疗的同胞姐妹的病程相比，神经功能衰退的 onset 延迟了1年，且进展速度较慢。 （注：onset 此处可能是“发作、开始”之意，原文表述稍显奇怪，推测可能是想表达病情发展相关起始情况）
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