[由α-1,4-葡糖苷酶缺乏引起的模拟进行性肌营养不良的肌肉糖原贮积症。（临床与酶学研究。光学与电子显微镜检查）] - Suppr

Suppr

超能文献

[Muscular glycogenosis caused by alpha-1,4-glucosidase deficiency simulating progressive muscular dystrophy. (Clinical and enzyme study. Optic and electron microscopy)].

作者信息

Courtecuissf V, Royer P, Habib R, Monnier C, Demos J

出版信息

Arch Fr Pediatr. 1965 Dec;22(10):1153-64.

PMID:5216071

Abstract

摘要

相似文献

[Muscular glycogenosis caused by alpha-1,4-glucosidase deficiency simulating progressive muscular dystrophy. (Clinical and enzyme study. Optic and electron microscopy)].[由α-1,4-葡糖苷酶缺乏引起的模拟进行性肌营养不良的肌肉糖原贮积症。（临床与酶学研究。光学与电子显微镜检查）]

Arch Fr Pediatr. 1965 Dec;22(10):1153-64.

Muscular form of glycogenosis type II (Pompe's disease).II型糖原贮积病（庞贝病）的肌肉型

Pediatrics. 1979 Jan;63(1):124-9.

[On progressive myopathy with muscle phosphorylase deficiency and giant mitochondria].[关于伴有肌肉磷酸化酶缺乏和巨大线粒体的进行性肌病]

Wien Klin Wochenschr. 1967 Dec 8;79(49):917-21.

A mild form of muscular glycogenosis in two brothers with alpha-1, 4-glucosidase deficiency.两名患有α-1,4-葡萄糖苷酶缺乏症的兄弟患有一种轻度形式的肌肉糖原贮积病。

Ann Paediatr. 1965;205(6):413-37.

[Muscular glycogenosis (type 3) in a 15-year-old boy].[一名15岁男孩的肌肉糖原贮积病（3型）]

Neuropatol Pol. 1970 Jul-Sep;8(3):265-70.

Electromyographic characteristics of congenital and early onset motor unit diseases.先天性和早发性运动单位疾病的肌电图特征

Arch Phys Med Rehabil. 1971 Aug;52(8):343-61.

[Diagnostic problems in various types of glycogenosis].

Wien Med Wochenschr. 1974 Jun 22;124(25):428-31.

[Case of polymyositis resembling progressive muscular dystrophy].[疑似进行性肌营养不良的多发性肌炎病例]

Naika. 1970 Sep;26(3):581-4.

Late familial pseudo-myopathic muscular glycogenosis with alpha 1,4 glucosidase deficiency. Morphological, histoenzymological and biochemical approach.伴有α-1,4-葡萄糖苷酶缺乏的迟发性家族性假性肌病性肌肉糖原贮积症。形态学、组织酶学及生物化学研究方法

Pathol Eur. 1975;10(1):51-9.

Muscle disorders in the floppy child.松软儿的肌肉疾病

Perspect Pediatr Pathol. 1978;4:349-86.

引用本文的文献

The natural course of non-classic Pompe's disease; a review of 225 published cases.非典型庞贝氏病的自然病程；对225例已发表病例的综述

J Neurol. 2005 Aug;252(8):875-84. doi: 10.1007/s00415-005-0922-9.

Leaky splicing mutation in the acid maltase gene is associated with delayed onset of glycogenosis type II.酸性麦芽糖酶基因中的渗漏剪接突变与II型糖原贮积症的延迟发病有关。

Am J Hum Genet. 1995 Apr;56(4):887-97.

Alpha-1,4-glucosidase activity in leucocytes from the family of two brothers who lack this enzyme in muscle.来自两兄弟家族的白细胞中的α-1,4-葡萄糖苷酶活性，这两兄弟的肌肉中缺乏这种酶。

Biochem J. 1966 Oct;101(1):16C-18C. doi: 10.1042/bj1010016c.

The glycogen storage diseases.糖原贮积病

J Clin Pathol Suppl (R Coll Pathol). 1974;8:106-21.

[Myopathy due to acid maltase deficiency. Pompe's disease in adolescence and adult (author's transl)].酸性麦芽糖酶缺乏所致肌病。青少年及成人庞贝病（作者译）

Arch Psychiatr Nervenkr (1970). 1974;218(2):93-106. doi: 10.1007/BF00343162.

Alpha-1,4-glucosidase activity in leucocytes and lymphocytes of 2 adult patients with glycogen-storage disease type II, (Pompe's disease).2例成年II型糖原贮积病（庞贝氏病）患者白细胞和淋巴细胞中的α-1,4-葡萄糖苷酶活性。

Experientia. 1973 Aug 15;29(8):972-3. doi: 10.1007/BF01930409.

Skeletal muscle glycogenosis type II: biochemical and electron microscopic investigations of one case.II型骨骼肌糖原贮积症：1例的生化及电子显微镜研究

Z Neurol. 1972;201(2):98-108. doi: 10.1007/BF00316197.

Juvenile acid maltase deficiency presenting as paravertebral pseudotumour.表现为椎旁假肿瘤的青少年酸性麦芽糖酶缺乏症。

Eur J Pediatr. 1988 May;147(4):372-6. doi: 10.1007/BF00496413.

Myopathies due to enzyme deficiencies.酶缺乏所致的肌病

J Neurol. 1985;232(6):329-40. doi: 10.1007/BF00313831.

Identification of the base-pair substitution responsible for a human acid alpha glucosidase allele with lower "affinity" for glycogen (GAA 2) and transient gene expression in deficient cells.鉴定导致对糖原具有较低“亲和力”的人类酸性α-葡萄糖苷酶等位基因（GAA 2）的碱基对替换以及在缺陷细胞中的瞬时基因表达。

Am J Hum Genet. 1990 Sep;47(3):440-5.

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