一例家族性成人异染性脑白质营养不良的临床及组织学诊断（作者译） - Suppr

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超能文献

[Clinical and histological diagnosis of a case of familial adult metachromatic leucodystrophy (author's transl)].

作者信息

Czmok E, Regli F, Bischoff A, Harzer K, Benz H U

出版信息

J Neurol. 1974;207(3):189-204. doi: 10.1007/BF00312560.

DOI:10.1007/BF00312560

PMID:4137382

Abstract

摘要

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[Clinical and histological diagnosis of a case of familial adult metachromatic leucodystrophy (author's transl)].一例家族性成人异染性脑白质营养不良的临床及组织学诊断（作者译）

J Neurol. 1974;207(3):189-204. doi: 10.1007/BF00312560.

[Quantitative metachromasia with pseudoisocyanin: a new method for the determination of sulphatides, and for use in the diagnosis of metachromatic leucodystrophy (sulphatide lipidosis) (author's transl)].假异氰蓝定量异染性：一种测定硫脂以及用于诊断异染性脑白质营养不良（硫脂沉积症）的新方法（作者译）

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The diagnostic value of sural nerve biopsy in metachromatic leucodystrophy and other conditions with low leucocyte arylsulphatase A activities.腓肠神经活检在异染性脑白质营养不良及其他白细胞芳基硫酸酯酶A活性降低疾病中的诊断价值。

Neuropediatrics. 1982 Feb;13(1):42-6. doi: 10.1055/s-2008-1059594.

[Metachromatic leucodystrophy. A genetic study of a familial adult form of metachromatic leucodystrophy (author's transl)].[异染性脑白质营养不良。家族性成人型异染性脑白质营养不良的遗传学研究（作者译）]

Arch Psychiatr Nervenkr (1970). 1974;219(4):369-75. doi: 10.1007/BF00343607.

Biochemical abnormalities of metachromatic leukodystrophy in an adult psychiatric population.成年精神疾病患者群体中异染性脑白质营养不良的生化异常

Am J Psychiatry. 1981 Oct;138(10):1372-4. doi: 10.1176/ajp.138.10.1372.

[Adult metachromatic leucodystrophy (author's transl)].成人异染性脑白质营养不良（作者译）

Acta Neurol Belg. 1978 May-Jun;78(3):162-6.

Metachromatic leukodystrophy without arylsulfatase A deficiency.无芳基硫酸酯酶A缺乏症的异染性脑白质营养不良

Pediatr Res. 1979 Oct;13(10):1179-81. doi: 10.1203/00006450-197910000-00021.

[Electron microscopical findings in the sural nerve of twins with metachromatic leukodystrophy. An attempt to classify the findings according to distinctive phases of the disease (author's transl)].[异染性脑白质营养不良双胞胎腓肠神经的电子显微镜检查结果。根据疾病不同阶段对检查结果进行分类的尝试（作者译）]

Zentralbl Allg Pathol. 1977;121(1-2):22-32.

Peripheral neuropathy detected on electrophysiological study as first manifestation of metachromatic leucodystrophy in infancy.电生理研究检测到的周围神经病变作为婴儿期异染性脑白质营养不良的首发表现。

J Neurol Neurosurg Psychiatry. 1975 Feb;38(2):169-74. doi: 10.1136/jnnp.38.2.169.

[Metachromatic leukodystrophy in childhood. Description of a case].[儿童异染性脑白质营养不良。一例病例描述]

Minerva Pediatr. 1978 Aug 15;30(15):1243-50.

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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

J Child Neurol. 2010 May;25(5):572-80. doi: 10.1177/0883073809341669. Epub 2009 Dec 28.

Arch Psychiatr Nervenkr (1970). 1974;219(4):369-75. doi: 10.1007/BF00343607.

An adult case of metachromatic leukodystrophy. Light, polarization and electron microscopic study.一例成人异染性脑白质营养不良病例。光镜、偏振光显微镜及电镜研究。

Acta Neuropathol. 1975 Oct 1;32(4):333-9. doi: 10.1007/BF00696795.

[Ultrastructure of intracellular storage materials in an autopsy case of adult-onset metachromatic leucodystrophy (MLD) (author's transl)].成人型异染性脑白质营养不良（MLD）尸检病例中细胞内储存物质的超微结构（作者译）

Arch Psychiatr Nervenkr (1970). 1978 Jul 6;225(3):275-82. doi: 10.1007/BF00344014.

Comparative ultrastructural observations on peripheral nerve abnormalities in the late infantile, juvenile and late onset forms of metachromatic leukodystrophy.晚期婴儿型、青少年型及晚发型异染性脑白质营养不良周围神经异常的超微结构比较观察

Acta Neuropathol. 1977 Aug 31;39(3):237-45. doi: 10.1007/BF00691703.

Electron microscopic investigation of inclusion material in a case of adult metachromatic leukodystrophy; observations on kidney biopsy, peripheral nerve and cerebral white matter.成人异染性脑白质营养不良一例中包涵体物质的电子显微镜研究；肾脏活检、周围神经和脑白质的观察结果

Acta Neuropathol. 1975 Dec 8;33(2):165-71. doi: 10.1007/BF00687542.

本文引用的文献

EVIDENCE FOR THE GENETIC BLOCK IN METACHROMATIC LEUCODYSTROPHY (ML).异染性脑白质营养不良（ML）中基因阻断的证据。

Biochem Biophys Res Commun. 1965 May 3;19:407-11. doi: 10.1016/0006-291x(65)90137-3.

The assay of arylsulphatases A and B in human urine.人尿中芳基硫酸酯酶A和B的测定。

Clin Chim Acta. 1959 May;4(3):453-5. doi: 10.1016/0009-8981(59)90119-6.

Metachromatic from of diffuse cerebral sclerosis. II. Diagnosis during life by isolation of metachromatic lipids from urine.弥漫性脑硬化的异染性形式。二、通过从尿液中分离异染性脂质进行生前诊断。

Neurology. 1957 Oct;7(10):716-23. doi: 10.1212/wnl.7.10.716.

Metachromatic form of diffuse cerebral sclerosis. I. Diagnosis during life by urine sediment examination.弥漫性脑硬化的异染性形式。I. 通过尿沉渣检查进行生前诊断。

Neurology. 1957 Jun;7(6):415-26. doi: 10.1212/wnl.7.6.415.

[Histological methods in differential diagnosis of leukodystrophy from lipoidosis].[用于脑白质营养不良与类脂沉积症鉴别诊断的组织学方法]

Arch Psychiatr Nervenkr Z Gesamte Neurol Psychiatr. 1955;194(1):88-104. doi: 10.1007/BF00392351.

Isolation and chemical characterization of metachromatic granules from a brain with metachromatic leukodystrophy.从患有异染性脑白质营养不良的大脑中分离并进行异染粒的化学特性分析。

J Neuropathol Exp Neurol. 1967 Oct;26(4):537-50. doi: 10.1097/00005072-196710000-00002.

[Amaurotic idiocy connected with metachromatic leukodystrophy: transitional form or combination? Electron microscopic and histochemical finding].[与异染性脑白质营养不良相关的黑蒙性白痴：过渡形式还是合并症？电子显微镜和组织化学研究结果]

Acta Neuropathol. 1967 May 5;8(3):292-308. doi: 10.1007/BF00688830.

Metachromatic form of diffuse cerebral sclerosis. VI. A rapid test for the sulfatase A deficiency in metachromatic leukodystrophy (MLD) urine.

Arch Neurol. 1966 Mar;14(3):259-69. doi: 10.1001/archneur.1966.00470090031004.

Metachromatic leukodystrophy: diagnosis with samples of venous blood.异染性脑白质营养不良：通过静脉血样本进行诊断

Science. 1968 Aug 9;161(3841):594-5. doi: 10.1126/science.161.3841.594.

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.

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