一名68岁男性因酸性麦芽糖酶缺乏症出现肌病和运动诱发性尿失禁。 - Suppr

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超能文献

Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male.

作者信息

Chancellor A M, Warlow C P, Webb J N, Lucas M G, Besley G T, Broadhead D M

出版信息

J Neurol Neurosurg Psychiatry. 1991 Jul;54(7):659-60. doi: 10.1136/jnnp.54.7.659.

DOI:10.1136/jnnp.54.7.659

PMID:1895140

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1014450/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/cd44/1014450/2bb54c78a63e/jnnpsyc00505-0091-a.jpg

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Acid maltase deficiency presenting with a myopathy and exercise induced urinary incontinence in a 68 year old male.一名68岁男性因酸性麦芽糖酶缺乏症出现肌病和运动诱发性尿失禁。

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本文引用的文献

Respiratory failure as initial symptom of acid maltase deficiency.呼吸衰竭作为酸性麦芽糖酶缺乏症的初始症状。

J Neurol Neurosurg Psychiatry. 1984 May;47(5):549-52. doi: 10.1136/jnnp.47.5.549.

Acid maltase deficiency in adults: studies in four cases of a syndrome which may mimic muscular dystrophy or other myopathies.成人酸性麦芽糖酶缺乏症：对四例可能酷似肌营养不良或其他肌病的综合征病例的研究。

Brain. 1970;93(3):599-616. doi: 10.1093/brain/93.3.599.

The spectrum and diagnosis of acid maltase deficiency.酸性麦芽糖酶缺乏症的谱系及诊断

Neurology. 1973 Jan;23(1):95-106. doi: 10.1212/wnl.23.1.95.

Adult onset acid maltase deficiency. Distribution and progression of clinical and pathological abnormality in a family.成人型酸性麦芽糖酶缺乏症。一个家族中临床及病理异常的分布与进展情况

J Neurol Sci. 1985 Apr;68(1):61-74. doi: 10.1016/0022-510x(85)90050-4.

Protein turnover in acid maltase deficiency before and after treatment with a high protein diet.

J Neurol Neurosurg Psychiatry. 1987 May;50(5):587-92. doi: 10.1136/jnnp.50.5.587.

Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.II型糖原贮积病的临床多样性。突变成纤维细胞中酸性α-葡萄糖苷酶的生物合成及原位定位。

J Clin Invest. 1987 Jun;79(6):1689-99. doi: 10.1172/JCI113008.

The adult form of acid maltase (alpha-1,4-glucosidase) deficiency.成人型酸性麦芽糖酶（α-1,4-葡萄糖苷酶）缺乏症。

Ann Neurol. 1977 Mar;1(3):276-80. doi: 10.1002/ana.410010314.

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