Inheritance of metachromatic leukodystrophy.
作者信息
Langenbeck U, Dunker P, Heipertz R, Pilz H
出版信息
Am J Hum Genet. 1977 Nov;29(6):639-40.
Abstract
摘要
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Inheritance of metachromatic leukodystrophy.异染性脑白质营养不良的遗传。
Am J Hum Genet. 1977 Nov;29(6):639-40.
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引用本文的文献
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Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy.健康个体中的假性芳基硫酸酯酶A缺乏症：与异染性脑白质营养不良的遗传和生化关系。
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Genetic heterogeneity in metachromatic leukodystrophy.异染性脑白质营养不良中的遗传异质性。
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Heterozygote detection in MLD. allelic mutations at the ARA locus.异染性脑白质营养不良中的杂合子检测。芳基硫酸酯酶A基因座的等位基因突变。
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The genetics of the aryl sulfatase A locus.芳基硫酸酯酶A基因座的遗传学
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Attenuated activities and structural alterations of arylsulfatase A in tissues from subjects with pseudo arylsulfatase A deficiency.假性芳基硫酸酯酶A缺乏症患者组织中芳基硫酸酯酶A的活性减弱及结构改变。
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Pseudodeficiency of arylsulfatase A: a common genetic polymorphism with possible disease implications.芳基硫酸酯酶A假性缺乏：一种常见的基因多态性，可能与疾病相关。
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An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy.一种用于快速检测芳基硫酸酯酶A假缺陷等位基因的检测方法有助于异染性脑白质营养不良的诊断和遗传咨询。
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Basic findings and current developments in sphingolipidoses.鞘脂贮积病的基本研究结果与当前进展
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本文引用的文献
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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
Metachromatic leukodystrophy (MLD). 8. MLD in adults; diagnosis and pathogenesis.异染性脑白质营养不良（MLD）。8. 成人MLD；诊断与发病机制。
Arch Neurol. 1968 Mar;18(3):225-40. doi: 10.1001/archneur.1968.00470330015001.
3
[Clinical and genealogical report on a new family with three cases of adult metachromatic leukodystrophy].
Schweiz Arch Neurol Neurochir Psychiatr. 1971;109(2):313-21.
4
Late adult metachromatic leukodystrophy. Arylsulfatase A activity of leukocytes in two families.晚发型成人异染性脑白质营养不良。两个家族中白细胞的芳基硫酸酯酶A活性。
Arch Neurol. 1972 Jul;27(1):87-90. doi: 10.1001/archneur.1972.00490130089013.
5
The application of bacterial genetics to the study of human genetic abnormalities.
Prog Med Genet. 1969;6:169-200.
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The genetics of hereditary angioedema: a hypothesis.
Clin Genet. 1973 Jun;4(6):494-9. doi: 10.1111/j.1399-0004.1973.tb01938.x.
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Dominant inheritance of McArdle syndrome.
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The activator of cerebroside sulphatase. Purification from human liver and identification as a protein.脑苷脂硫酸酯酶激活剂。从人肝脏中纯化并鉴定为一种蛋白质。
Hoppe Seylers Z Physiol Chem. 1975 May;356(5):605-13. doi: 10.1515/bchm2.1975.356.1.605.
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