鞘脂类贮积病的研究进展 - Suppr

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Progress in investigations of sphingolipidoses.

作者信息

Adachi M, Schneck L, Volk B W

出版信息

Acta Neuropathol. 1978 Aug 7;43(1-2):1-18. doi: 10.1007/BF00684994.

DOI:10.1007/BF00684994

PMID:97916

Abstract

摘要

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Progress in investigations of sphingolipidoses.鞘脂类贮积病的研究进展

Acta Neuropathol. 1978 Aug 7;43(1-2):1-18. doi: 10.1007/BF00684994.

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The Genetics of Angiokeratoma Corporis Diffusum (Fabry's Disease) and Its Linkage Relations with the Xg Locus.弥漫性躯体血管角质瘤（法布里病）的遗传学及其与Xg基因座的连锁关系。

Am J Hum Genet. 1965 Jul;17(4):325-42.

Accumulation of a glycerolphospholipid in classical niemann-pick disease.经典型尼曼-匹克病中甘油磷脂的蓄积。

Lipids. 1968 May;3(3):287-90. doi: 10.1007/BF02531203.

Brain ceramide hexosides in Tay-Sachs disease and generalized gangliosidosis (GM1-gangliosidosis).泰-萨克斯病和全身性神经节苷脂贮积症（GM1-神经节苷脂贮积症）中的脑神经酰胺己糖苷。

J Lipid Res. 1967 Mar;8(2):105-13.

Tay-Sachs' disease with visceral involvement and its relationship to Niemann-Pick's disease.伴有内脏受累的泰-萨克斯病及其与尼曼-匹克病的关系。

J Pathol Bacteriol. 1959 Oct;78:409-21. doi: 10.1002/path.1700780208.

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.

METABOLISM OF GLUCOCEREBROSIDES. II. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN GAUCHER'S DISEASE.葡萄糖脑苷脂的代谢。II. 戈谢病中酶缺乏的证据。

Biochem Biophys Res Commun. 1965 Jan 18;18:221-5. doi: 10.1016/0006-291x(65)90743-6.

ULTRASTRUCTURAL AND BIOCHEMICAL OBSERVATIONS ON A CASE OF SYSTEMIC LATE INFANTILE LIPIDOSIS AND ITS RELATIONSHIP TO TAY-SACHS DISEASE AND GARGOYLISM.一例全身性晚发性婴儿脂质沉积症的超微结构及生化观察及其与泰-萨克斯病和黏多糖贮积症的关系

J Neuropathol Exp Neurol. 1965 Apr;24:318-40. doi: 10.1097/00005072-196504000-00011.

STUDIES IN GLOBOID (KRABBE) LEUKODYSTROPHY. 3. SIGNIFICANCE OF EXPERIMENTALLY-PRODUCED GLOBOID-LIKE ELEMENTS IN RAT WHITE MATTER AND SPLEEN.球状（克拉伯）脑白质营养不良的研究。3. 实验诱导的大鼠白质和脾脏中类球状元素的意义

J Neuropathol Exp Neurol. 1965 Apr;24:265-89.

GENERALIZED GANGLIOSIDOSIS: ANOTHER INBORN ERROR OF GANGLIOSIDE METABOLISM?全身性神经节苷脂沉积症：另一种神经节苷脂代谢的先天性缺陷？

Am J Dis Child. 1965 Apr;109:338-46.

FAMILIAL NEUROVISCERAL LIPIDOSIS. AN ANALYSIS OF EIGHT CASES OF A SYNDROME PREVIOUSLY REPORTED AS "HURLER-VARIANT," "PSEUDO-HURLER," AND "TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT".家族性神经内脏脂质沉积症。对先前报告为“胡尔勒变异型”、“假性胡尔勒”和“伴有内脏受累的泰-萨克斯病”的一种综合征的8例病例分析。

Am J Dis Child. 1964 Nov;108:503-22.

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