由于酸性麦芽糖酶缺乏导致糖原贮积病引起的成人肌病。 - Suppr

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超能文献

Adult myopathy from glycogen storage disease due to acid maltase deficiency.

作者信息

Hudgson P, Gardner-Medwin D, Worsfold M, Pennington R J, Walton J N

出版信息

Brain. 1968 Sep;91(3):435-62. doi: 10.1093/brain/91.3.435.

DOI:10.1093/brain/91.3.435

PMID:5247277

Abstract

摘要

相似文献

Adult myopathy from glycogen storage disease due to acid maltase deficiency.由于酸性麦芽糖酶缺乏导致糖原贮积病引起的成人肌病。

Brain. 1968 Sep;91(3):435-62. doi: 10.1093/brain/91.3.435.

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.

[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.

[Glycogenosis type II (Pompe's disease) associated with alpha-amylase and hyaluronidase deficiency].[与α-淀粉酶和透明质酸酶缺乏相关的II型糖原贮积病（庞贝病）]

Dtsch Med Wochenschr. 1969 Jul 4;94(27):1414-6. doi: 10.1055/s-0028-1110271.

Myopathy resembling McArdle's syndrome.

Arch Neurol. 1969 Jun;20(6):586-98. doi: 10.1001/archneur.1969.00480120032002.

[Glycogenosis due to amylo-1-6-glucosidase deficiency associated with a disorder thyroid hormone synthesis].[因淀粉-1,6-葡萄糖苷酶缺乏症导致的糖原贮积病与甲状腺激素合成障碍相关]

Arch Fr Pediatr. 1971 Aug-Sep;28(7):699-709.

Polysaccharide storage myopathy.多糖贮积性肌病

Muscle Nerve. 1988 Apr;11(4):349-55. doi: 10.1002/mus.880110411.

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.

Myopathy associated with type 3 glycogenosis.与3型糖原贮积病相关的肌病。

J Neurol Sci. 1973 Nov;20(3):287-95. doi: 10.1016/0022-510x(73)90190-1.

A biochemical and ultrastructural study of liver, muscle, heart and kidney in type II glycogenosis.II型糖原贮积病肝脏、肌肉、心脏及肾脏的生化与超微结构研究

Virchows Arch B Cell Pathol. 1970;4(3):196-207. doi: 10.1007/BF02906075.

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Bulbar muscle impairment in patients with late onset Pompe disease: Insight from the French Pompe registry.晚期庞贝病患者的球部肌肉损伤：来自法国庞贝病登记处的观察。

Eur J Neurol. 2024 Oct;31(10):e16428. doi: 10.1111/ene.16428. Epub 2024 Aug 7.

A newly identified c.1824_1828dupATACG mutation in exon 13 of the GAA gene in infantile-onset glycogen storage disease type II (Pompe disease).婴儿型糖原贮积病II型（庞贝病）中GAA基因第13外显子新发现的c.1824_1828dupATACG突变。

Mol Biol Rep. 2014 Sep;41(9):6211-4. doi: 10.1007/s11033-014-3500-3. Epub 2014 Jun 30.

A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.酸性α-葡萄糖苷酶基因中的无义突变导致芬兰和瑞典拉普兰犬患上庞贝病。

PLoS One. 2013;8(2):e56825. doi: 10.1371/journal.pone.0056825. Epub 2013 Feb 14.

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.

Myoglobinuria in carnitine palmityltransferase deficiency.肉碱棕榈酰转移酶缺乏症中的肌红蛋白尿

Int Urol Nephrol. 1982;14(3):285-91. doi: 10.1007/BF02081815.

[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.

An isozyme of acid alpha-glucosidase with reduced catalytic activity for glycogen.一种对糖原具有降低催化活性的酸性α-葡萄糖苷酶同工酶。

Am J Hum Genet. 1980 Mar;32(2):137-49.

Myopathy due to juvenile acid maltase deficiency affecting exclusively the type I fibres.因青少年酸性麦芽糖酶缺乏导致的肌病，仅影响I型纤维。

J Neurol Neurosurg Psychiatry. 1984 Feb;47(2):213-5. doi: 10.1136/jnnp.47.2.213.

Acid maltase levels in muscle in heterozygous acid maltase deficiency and in non-weak and neuromuscular disease controls.杂合性酸性麦芽糖酶缺乏症患者肌肉中的酸性麦芽糖酶水平以及非虚弱型和神经肌肉疾病对照者肌肉中的酸性麦芽糖酶水平。

J Neurol Neurosurg Psychiatry. 1970 Dec;33(6):801-4. doi: 10.1136/jnnp.33.6.801.

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