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1
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.
2
Molecular genetics of metachromatic leukodystrophy.异染性脑白质营养不良的分子遗传学
J Inherit Metab Dis. 1994;17(4):500-9. doi: 10.1007/BF00711364.
3
Metachromatic leukodystrophy: multiple nonfunctional and pseudodeficiency alleles in a pedigree: problems with diagnosis and counseling.异染性脑白质营养不良:一个家系中的多个无功能和假缺陷等位基因:诊断和遗传咨询问题
Ann Neurol. 1993 Aug;34(2):212-8. doi: 10.1002/ana.410340218.
4
Mutation Update of ARSA and PSAP Genes Causing Metachromatic Leukodystrophy.导致异染性脑白质营养不良的ARSA和PSAP基因的突变更新
Hum Mutat. 2016 Jan;37(1):16-27. doi: 10.1002/humu.22919. Epub 2015 Nov 4.
5
Apolipoprotein E genotype and LRP1 polymorphisms in patients with different clinical types of metachromatic leukodystrophy.载脂蛋白 E 基因型和 LRP1 多态性在不同临床类型脑白质营养不良患者中的研究。
Gene. 2013 Sep 10;526(2):176-81. doi: 10.1016/j.gene.2013.05.009. Epub 2013 May 20.
6
[Infantile metachromatic leukodystrophy in twins].
Arq Neuropsiquiatr. 1985 Sep;43(3):331-4. doi: 10.1590/s0004-282x1985000300016.
7
Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy.导致异染性脑白质营养不良的芳基硫酸酯酶A假缺陷等位基因突变。
Am J Hum Genet. 1991 Aug;49(2):407-13.
8
A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms.一名异染性脑白质营养不良患者和一名有非进行性神经症状的患者,在芳基硫酸酯酶A假缺陷等位基因背景下存在一个9碱基对缺失(2320del9)。
Hum Genet. 1998 Jan;102(1):50-3. doi: 10.1007/s004390050652.
9
Molecular basis of metachromatic leukodystrophy.
N Engl J Med. 1991 Jun 6;324(23):1673. doi: 10.1056/NEJM199106063242315.
10
Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles.
Am J Med Genet. 1997 Nov 28;73(1):32-5. doi: 10.1002/(sici)1096-8628(19971128)73:1<32::aid-ajmg7>3.0.co;2-r.

引用本文的文献

1
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。
Proc Natl Acad Sci U S A. 1983 Dec;80(23):7323-7. doi: 10.1073/pnas.80.23.7323.
2
Genetic heterogeneity in metachromatic leukodystrophy.异染性脑白质营养不良中的遗传异质性。
Am J Hum Genet. 1982 Mar;34(2):171-81.
3
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。
Hum Genet. 1981;59(2):129-34. doi: 10.1007/BF00293061.
4
The genetics of the aryl sulfatase A locus.芳基硫酸酯酶A基因座的遗传学
Am J Hum Genet. 1981 Jul;33(4):531-9.
5
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。
Hum Genet. 1986 Sep;74(1):59-62. doi: 10.1007/BF00278786.
6
Two different forms of maple syrup urine disease in a single family.一个家庭中出现两种不同形式的枫糖尿症。
Hum Genet. 1986 Mar;72(3):279. doi: 10.1007/BF00291898.
7
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。
Hum Genet. 1989 Apr;82(1):45-8. doi: 10.1007/BF00288270.
8
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。
Hum Genet. 1991 Jan;86(3):251-5. doi: 10.1007/BF00202403.
9
Basic findings and current developments in sphingolipidoses.鞘脂贮积病的基本研究结果与当前进展
Hum Genet. 1979 Mar 12;47(2):113-34. doi: 10.1007/BF00273194.

本文引用的文献

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
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.
6
The genetics of hereditary angioedema: a hypothesis.
Clin Genet. 1973 Jun;4(6):494-9. doi: 10.1111/j.1399-0004.1973.tb01938.x.
7
Dominant inheritance of McArdle syndrome.
Arch Neurol. 1976 Sep;33(9):636-41. doi: 10.1001/archneur.1976.00500090042008.
8
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.
9
Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.异染性脑白质营养不良家族健康成员白细胞中芳基硫酸酯酶A和脑苷脂硫酸酯酶活性极低。
Am J Hum Genet. 1977 Mar;29(2):191-4.

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.

PMID:930929
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1685503/
Abstract
摘要