Infantile neurological Gaucher's disease in three siblings. An ultrastructural study.

Suppr

超能文献

作者信息

Hernández F, Bueno M

出版信息

Virchows Arch A Pathol Pathol Anat. 1973;360(1):27-32. doi: 10.1007/BF00548655.

DOI:10.1007/BF00548655

PMID:4199229

Abstract

摘要

相似文献

Infantile neurological Gaucher's disease in three siblings. An ultrastructural study.

Virchows Arch A Pathol Pathol Anat. 1973;360(1):27-32. doi: 10.1007/BF00548655.

Infantile Gaucher's disease: a case with neuronal storage.

Ann Neurol. 1988 Mar;23(3):300-3. doi: 10.1002/ana.410230315.

Studies on neural and visceral glycolipids in a case of infantile form of Gaucher's disease.婴儿型戈谢病一例的神经和内脏糖脂研究。

Jpn J Exp Med. 1972 Dec;42(6):513-26.

Infantile Gaucher's disease: electron microscopic and histochemical studies of a cerebral biopsy.婴儿型戈谢病：脑活检的电子显微镜及组织化学研究

J Neuropathol Exp Neurol. 1967 Jan;26(1):176-7.

[Brain involvement in congenital and early infantile Gaucher's disease].[先天性和早期婴儿型戈谢病中的脑部受累情况]

Zentralbl Allg Pathol. 1972;115(5):536-42.

[Histochemistry and ultrastructure in Gaucher's disease].[戈谢病的组织化学与超微结构]

Arch Anat Pathol (Paris). 1969 Jun;17(2):129-34.

Cerebral lipid composition in infantile Gaucher's disease (IGD).婴儿型戈谢病（IGD）中的脑脂质组成。

Neurology. 1968 Mar;18(3):301.

Gaucher's disease: clinical, morphologic, and pathogenetic considerations.戈谢病：临床、形态学及发病机制方面的考量

Pathol Annu. 1977;12 Pt 2:309-39.

Gaucher's disease: a case history with extensive lipid storage in the brain.戈谢病：一例脑部广泛脂质蓄积的病例报告

Am J Clin Pathol. 1985 Apr;83(4):516-9. doi: 10.1093/ajcp/83.4.516.

[Biochemistry of Gaucher's disease].[戈谢病的生物化学]

Wien Klin Wochenschr. 1968 Apr 5;80(14):257-60.

引用本文的文献

Deletion of Gba in neurons, but not microglia, causes neurodegeneration in a Gaucher mouse model.神经元而非小胶质细胞中的 Gba 缺失导致 Gaucher 小鼠模型发生神经退行性变。

JCI Insight. 2024 Nov 8;9(21):e179126. doi: 10.1172/jci.insight.179126.

Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration.神经元葡萄糖脑苷脂在神经病变型戈谢病小鼠模型中的积累导致神经退行性变。

Hum Mol Genet. 2014 Feb 15;23(4):843-54. doi: 10.1093/hmg/ddt468. Epub 2013 Sep 24.

Glucosylceramide transfer from lysosomes--the missing link in molecular pathology of glucosylceramidase deficiency: a hypothesis based on existing data.来自溶酶体的葡萄糖神经酰胺转移——葡萄糖神经酰胺酶缺乏分子病理学中缺失的环节：基于现有数据的假说

J Inherit Metab Dis. 2006 Dec;29(6):707-15. doi: 10.1007/s10545-006-0411-z. Epub 2006 Nov 2.

Sphingolipid activator protein deficiency in a 16-week-old atypical Gaucher disease patient and his fetal sibling: biochemical signs of combined sphingolipidoses.

Eur J Pediatr. 1989 Oct;149(1):31-9. doi: 10.1007/BF02024331.

本文引用的文献

Fine structure of central nervous system in early infantile Gaucher's disease.婴儿早期戈谢病中枢神经系统的精细结构

Arch Pathol. 1967 Jun;83(6):513-26.

Tissue acid hydrolase activities in Gaucher's disease.戈谢病中的组织酸性水解酶活性

Scand J Clin Lab Invest. 1968;22(1):62-4. doi: 10.3109/00365516809160739.

Cytochemical studies of lysosomes, golgi apparatus and endoplasmic reticulum in secretion and protein uptake by adrenal medulla cells of the rat.大鼠肾上腺髓质细胞分泌及蛋白质摄取过程中溶酶体、高尔基体和内质网的细胞化学研究

J Histochem Cytochem. 1968 May;16(5):320-36. doi: 10.1177/16.5.320.

Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.高雪氏病中葡糖脑苷脂裂解酶缺乏的证明。

J Clin Invest. 1966 Jul;45(7):1112-5. doi: 10.1172/JCI105417.

["Gaucher cells" in chronic myelocytic leukemia].

Klin Wochenschr. 1969 Jul 15;47(14):778-84. doi: 10.1007/BF01880124.

A histochemical and electron microscopic study of Gaucher cells.高雪氏细胞的组织化学与电子显微镜研究

Arch Pathol. 1970 Feb;89(2):137-53.

文献AI研究员

20分钟写一篇综述，助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型，支持多种主流文档格式。

立即体验