黏多糖贮积症“F”（岩藻糖苷贮积症）一例的生化及超微结构研究 - Suppr

Suppr

超能文献

Biochemical and ultrastructural studies in a case of mucopolysaccharidosis "F" (fucosidosis).

作者信息

Loeb H, Tondeur M, Jonniaux G, Mockel-Pohl S, Vamos-Hurwitz E

出版信息

Helv Paediatr Acta. 1969 Oct;24(5):519-37.

PMID:4247654

Abstract

摘要

相似文献

Biochemical and ultrastructural studies in a case of mucopolysaccharidosis "F" (fucosidosis).黏多糖贮积症“F”（岩藻糖苷贮积症）一例的生化及超微结构研究

Helv Paediatr Acta. 1969 Oct;24(5):519-37.

I-cell disease, mucolipidosis II. Pathological, histochemical, ultrastructural and biochemical observations in four cases.I型细胞病，即黏脂贮积症II型。4例病例的病理学、组织化学、超微结构及生物化学观察

Z Kinderheilkd. 1973;114(4):259-92.

Beta-glucuronidase deficiency mucopolysaccharidosis.β-葡萄糖醛酸酶缺乏性黏多糖贮积症

Birth Defects Orig Artic Ser. 1974;10(12):239-45.

Pathological findings in one case of neuronal and mesenchymal storage disease. Its relationship to lipidoses and to mucopolysaccharidoses.一例神经元和间充质贮积病的病理发现。其与脂质沉积症和黏多糖贮积症的关系。

Pathol Eur. 1968;3(2):172-83.

[A case of late infantile lipidosis. Anatomical, clinical, biochemical and ultrastructural data].[一例晚发性婴儿脂质沉积症。解剖学、临床、生化及超微结构数据]

Acta Neurol Psychiatr Belg. 1969 Mar;69(3):177-92.

The syndrome of the sea-blue histiocyte.海蓝色组织细胞综合征。

N Engl J Med. 1970 Jan 1;282(1):1-4. doi: 10.1056/NEJM197001012820101.

[Study of a case of polydystrophic oligophrenia (Hurler's syndrome, mucopolysaccharidosis)].[一例多营养不良性智力发育不全（胡勒氏综合征，粘多糖贮积症）的病例研究]

Pathol Eur. 1966;1(1):50-66.

Infantile GM1 gangliosidosis. Histochemical, ultrastructural and biochemical studies.婴儿GM1神经节苷脂贮积症。组织化学、超微结构及生物化学研究。

Helv Paediatr Acta. 1971 Jun;26(2):192-209.

[Histochemical study of the skin in fucosidosis].

Pathologica. 1971 Nov-Dec;63(925):269-73.

[Neuroimaging features in mucopolysaccharidosis: their correlation with mental retardation].黏多糖贮积症的神经影像学特征：及其与智力发育迟缓的相关性

Rev Neurol. 2006;43(12):760-2.

引用本文的文献

Emerging cellular themes in leukodystrophies.脑白质营养不良中新兴的细胞主题。

Front Cell Dev Biol. 2022 Aug 8;10:902261. doi: 10.3389/fcell.2022.902261. eCollection 2022.

Fucosidosis-Clinical Manifestation, Long-Term Outcomes, and Genetic Profile-Review and Case Series.黏脂贮积症的临床特征、长期预后和遗传特征：综述和病例系列。

Genes (Basel). 2020 Nov 22;11(11):1383. doi: 10.3390/genes11111383.

A mouse model for fucosidosis recapitulates storage pathology and neurological features of the milder form of the human disease.岩藻糖苷贮积症的小鼠模型概括了人类疾病较轻形式的储存病理学和神经学特征。

Dis Model Mech. 2016 Sep 1;9(9):1015-28. doi: 10.1242/dmm.025122. Epub 2016 Aug 4.

Mutation identification and characterization of a Taiwanese patient with fucosidosis.一名台湾岩藻糖苷贮积症患者的突变鉴定与特征分析

J Hum Genet. 2007;52(6):553-556. doi: 10.1007/s10038-007-0136-3. Epub 2007 Apr 11.

Blood film examination for vacuolated lymphocytes in the diagnosis of metabolic disorders; retrospective experience of more than 2,500 cases from a single centre.用于代谢紊乱诊断的血片空泡淋巴细胞检查：来自单一中心2500多例病例的回顾性经验

J Clin Pathol. 2005 Dec;58(12):1305-10. doi: 10.1136/jcp.2005.027045.

Ultrastructural studies of type II fucosidosis.II型岩藻糖苷贮积症的超微结构研究。

Arch Dermatol Res. 1981;270(1):57-66. doi: 10.1007/BF00417150.

Fucosidosis: deficiency of alpha-L-fucosidase in cultured skin fibroblasts.岩藻糖苷贮积症：培养的皮肤成纤维细胞中α-L-岩藻糖苷酶缺乏。

J Exp Med. 1972 Jul 1;136(1):197-9. doi: 10.1084/jem.136.1.197.

The genetic mucolipidoses. Diagnosis and differential diagnosis.遗传性黏脂贮积症。诊断与鉴别诊断。

Humangenetik. 1970;9(2):113-39. doi: 10.1007/BF00278928.

Mucopolysaccharidoses and mucolipidoses.黏多糖贮积症和黏脂贮积症。

J Clin Pathol Suppl (R Coll Pathol). 1974;8:64-93.

Identification of a mutation in the structural alpha-L-fucosidase gene in fucosidosis.岩藻糖贮积症中结构性α-L-岩藻糖苷酶基因突变的鉴定。

Am J Hum Genet. 1988 Nov;43(5):756-63.

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验