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A family study of the late infantile and juvenile forms of metachromatic leucodystrophy.

作者信息

Schutta H S, Pratt R T, Metz H, Evans K A, Carter C O

出版信息

J Med Genet. 1966 Jun;3(2):86-91. doi: 10.1136/jmg.3.2.86.

DOI:10.1136/jmg.3.2.86
PMID:5963214
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1012907/
Abstract
摘要

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1
A family study of the late infantile and juvenile forms of metachromatic leucodystrophy.晚期婴儿型和青少年型异染性脑白质营养不良的家系研究。
J Med Genet. 1966 Jun;3(2):86-91. doi: 10.1136/jmg.3.2.86.
2
Late infantile metachromatic leucodystrophy. Report of 2 cases and review of in vivo diagnostic tests.
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E.E.G. studies in 22 children with sulphatide lipidosis (metachromatic leucodystrophy).对22名患有硫脂沉积病（异染性脑白质营养不良）儿童的脑电图研究。
Dev Med Child Neurol. 1971 Feb;13(1):20-31. doi: 10.1111/j.1469-8749.1971.tb03028.x.
4
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Acta Paediatr Scand. 1971 Sep;60(5):585-90. doi: 10.1111/j.1651-2227.1971.tb06994.x.

引用本文的文献

1
An Introduction to Biochemical Genetics.生化遗传学导论
J R Coll Physicians Lond. 1967 Jan;1(2):167-176.
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Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature.异染性脑白质营养不良：一例三胞胎患晚发性婴儿型变异型病例及文献系统综述
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Metachromatic leucodystrophy: review of 38 cases.异染性脑白质营养不良：38例病例回顾
Arch Dis Child. 1982 Mar;57(3):168-75. doi: 10.1136/adc.57.3.168.
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Juvenile metachromatic leucodystrophy. Case report with clinical, histopathological, ultrastructural and biochemical observations.青少年异染性脑白质营养不良。附临床、组织病理学、超微结构及生化观察的病例报告。
Acta Neuropathol. 1973 Oct 11;26(2):93-106. doi: 10.1007/BF00697745.
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Four cases of late onset metachromatic leucodystrophy in a family: clinical, biochemical and neuropathological studies.一个家族中的4例迟发性异染性脑白质营养不良：临床、生化及神经病理学研究
J Neurol Neurosurg Psychiatry. 1986 Dec;49(12):1417-22. doi: 10.1136/jnnp.49.12.1417.
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Inheritance of metachromatic leukodystrophy.异染性脑白质营养不良的遗传。
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本文引用的文献

1
Late infantile metachromatic leuco-encephalopathy, with primary degeneration of the interfascicular oligodendroglia.晚发性婴儿异染性脑白质营养不良，伴束间少突胶质细胞原发性变性。
Brain. 1950;73(3):291-317. doi: 10.1093/brain/73.3.291.
2
On the relationship of metachromatic leucodystrophy and amaurotic idiocy.关于异染性脑白质营养不良与黑蒙性白痴的关系。
Brain. 1961 Dec;84:585-604. doi: 10.1093/brain/84.4.585.
3
[On metachromatic leukodystrophy (Scholz type)].[关于异染性脑白质营养不良（朔尔茨型）]
Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr. 1959;199:386-416. doi: 10.1007/BF00342847.
4
Infantile metachromatic leukodystrophy. (Greenfield's disease).
J Neuropathol Exp Neurol. 1960 Jul;19:323-41. doi: 10.1097/00005072-196007000-00001.
5
Late infantile metachromatic leucodystrophy of the genetic type.遗传型晚发性婴儿异染性脑白质营养不良
Acta Paediatr (Stockh). 1960 Mar;49:135-53. doi: 10.1111/j.1651-2227.1960.tb07715.x.
6
THE VISCERAL LESIONS OF METACHROMATIC LEUKODYSTROPHY.异染性脑白质营养不良的内脏病变
Am J Pathol. 1964 Jun;44(6):921-30.
7
PERIPHERAL NERVE CONDUCTION IN METACHROMATIC LEUKODYSTROPHY (SULPHATIDE LIPIDOSIS).异染性脑白质营养不良（硫脂沉积症）中的周围神经传导
J Neurol Neurosurg Psychiatry. 1964 Apr;27(2):100-5.
8
[AN INFANTILE FORM OF METACHROMATIC LEUKODYSTROPHY].
Neurol Neurochir Psychiatr Pol. 1963 May-Jun;13:339-45.
9
THE RECTAL APPROACH TO NEUROPATHOLOGY.神经病理学的直肠检查方法。
Br J Surg. 1963 Jul;50:702-14. doi: 10.1002/bjs.18005022507.
10
Diffuse cerebral sclerosis with endocrine abnormalities in young males.
Brain. 1962 Sep;85:553-68. doi: 10.1093/brain/85.3.553.