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ULTRASTRUCTURAL AND BIOCHEMICAL OBSERVATIONS ON A CASE OF SYSTEMIC LATE INFANTILE LIPIDOSIS AND ITS RELATIONSHIP TO TAY-SACHS DISEASE AND GARGOYLISM.

作者信息

GONATAS N K, GONATAS J

出版信息

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

DOI:10.1097/00005072-196504000-00011
PMID:14280505
Abstract
摘要

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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
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STRUCTURE COMPARISON OF THE MAJOR MONOSIALOGANGLIOSIDES FROM BRAINS OF NORMAL HUMAN, GARGOYLISM, AND LATE INFANTILE SYSTEMIC LIPIDOSIS. I.正常人类、黏多糖贮积症和晚期婴儿全身性脂质沉积症患者大脑中主要单唾液酸神经节苷脂的结构比较。I.
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TAY-SACHS DISEASE WITH VISCERAL INVOLVEMENT AND ITS RELATION TO GARGOYLISM.伴有内脏受累的泰-萨克斯病及其与黏多糖贮积症的关系。
Arch Dis Child. 1964 Dec;39(208):634-40. doi: 10.1136/adc.39.208.634.
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A CLINICAL, BIOCHEMICAL AND ELECTRON MICROSCOPIC STUDY OF LATE INFANTILE AMAUROTIC FAMILY IDIOCY.晚发性婴儿黑蒙性家族性白痴的临床、生化及电子显微镜研究
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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。
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Ital J Neurol Sci. 1981 Aug;2(3):219-26. doi: 10.1007/BF02335401.
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