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。 - Suppr

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超能文献

A mild form of muscular glycogenosis in two brothers with alpha-1, 4-glucosidase deficiency.

作者信息

Zellweger H, Brown B I, McCormick W F, Tu J B

出版信息

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

PMID:5217754

Abstract

摘要

相似文献

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.

[Type II glycogenosis].[II型糖原贮积病]

Sem Hop. 1974 Feb 8;50(7):489-95.

[Results of clinical, biochemical, light-microscopical and ultrastructural studies of childhood glycogenosis in two brothers and their sister (author's transl)].

Z Kinderheilkd. 1973 Dec 12;116(1):23-41.

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.

[Electron microscopic study of liver and muscles in two cases of type 3 glycogenosis].[3型糖原贮积症两例肝脏和肌肉的电子显微镜研究]

Pathol Eur. 1972;7(2):112-25.

[Difficulties in determination of the type of glycogenosis].[糖原贮积症类型判定中的困难]

Pediatria (Bucur). 1974 Jan;23(1):19-34.

[Generalized glycogenosis (type II)].

Cah Med. 1970 Feb;11(2):175-9.

[A vacuolar myopathy: autophagic glycogenosis of late onset. Ultrastructural study].[一种空泡性肌病：迟发性自噬性糖原贮积症。超微结构研究]

Ann Anat Pathol (Paris). 1971 Jan-Mar;16(1):47-54.

[Muscular glycogenosis (type 3) in a 15-year-old boy].

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

Acid maltase deficiency of adult life.成人期酸性麦芽糖酶缺乏症

Trans Am Neurol Assoc. 1969;94:250-2.

引用本文的文献

Acid α-glucosidase (GAA) activity and glycogen content in muscle biopsy specimens of patients with Pompe disease: A systematic review.庞贝病患者肌肉活检标本中的酸性α-葡萄糖苷酶（GAA）活性和糖原含量：一项系统评价。

Mol Genet Metab Rep. 2024 Apr 25;39:101085. doi: 10.1016/j.ymgmr.2024.101085. eCollection 2024 Jun.

Phenotypic implications of pathogenic variant types in Pompe disease.庞贝病致病性变异类型的表型影响。

J Hum Genet. 2021 Nov;66(11):1089-1099. doi: 10.1038/s10038-021-00935-9. Epub 2021 May 11.

Contemporary Insights Into the Genetics of Hypertrophic Cardiomyopathy: Toward a New Era in Clinical Testing?当代肥厚型心肌病遗传学研究进展：是否即将开启临床检测新纪元？

J Am Heart Assoc. 2020 Apr 21;9(8):e015473. doi: 10.1161/JAHA.119.015473. Epub 2020 Apr 18.

[High frequency discharges as a non-specific EMG activity in adult acid maltase deficiency (author's transl)].[高频放电作为成人酸性麦芽糖酶缺乏症中的一种非特异性肌电图活动（作者译）]

Arch Psychiatr Nervenkr (1970). 1980;228(1):45-51. doi: 10.1007/BF00365743.

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.

[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.

Generalized glycogenosis type II (Pompe's disease).

Arch Dis Child. 1970 Feb;45(239):122-9. doi: 10.1136/adc.45.239.122.

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.

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

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

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