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。 - Suppr

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超能文献

Alpha-1,4-glucosidase activity in leucocytes and lymphocytes of 2 adult patients with glycogen-storage disease type II, (Pompe's disease).

作者信息

Seiler D, Kelleter R, Kölmel H W, Heene R

出版信息

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

DOI:10.1007/BF01930409

PMID:4522267

Abstract

摘要

相似文献

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.

The use of leucocytes as an aid in the diagnosis of glycogen storage disease type II (Pompe's disease).白细胞在Ⅱ型糖原贮积病（庞贝氏病）诊断中的应用。

Clin Chim Acta. 1974 Mar 26;51(3):319-25. doi: 10.1016/0009-8981(74)90319-2.

Choice of leucocyte preparation in the diagnosis of glycogen storage disease type II (Pompe's disease).糖原贮积病II型（庞贝病）诊断中白细胞制剂的选择。

Clin Chim Acta. 1971 Dec;35(2):277-80. doi: 10.1016/0009-8981(71)90194-x.

The electrophoretic pattern and activities of acid and neutral maltase of cultivated fibroblasts and amniotic fluid cells from controls and patients with the variant of glycogen storage disease type II (Pompe's disease).来自对照组以及患有II型糖原贮积病（庞贝氏病）变体的患者的培养成纤维细胞和羊水细胞的酸性和中性麦芽糖酶的电泳图谱及活性

Clin Chim Acta. 1972 Aug;40(1):294-7. doi: 10.1016/0009-8981(72)90288-4.

alpha-Glucosidase in Pompe's disease.庞贝病中的α-葡萄糖苷酶

J Inherit Metab Dis. 1978;1(4):153-4. doi: 10.1007/BF01805584.

Alpha-1,4 glucosidase activity in Pompe's disease.庞贝病中的α-1,4-葡萄糖苷酶活性

J Pediatr. 1971 Nov;79(5):794-8. doi: 10.1016/s0022-3476(71)80393-1.

alpha-glucosidase activity in human leucocytes: choice of lymphocytes for the diagnosis of Pompe's disease and the carrier state.人类白细胞中的α-葡萄糖苷酶活性：选择淋巴细胞用于庞贝病及携带者状态的诊断

Clin Chim Acta. 1978 Oct 16;89(2):293-9. doi: 10.1016/0009-8981(78)90328-5.

A fluorometric assay of alpha-glucosidase and its application in the study of Pompe's disease.α-葡萄糖苷酶的荧光测定法及其在庞贝病研究中的应用。

J Lab Clin Med. 1973 Mar;81(3):450-4.

Immunochemical studies of human acid alpha-1,4-glucosidase in type II glycogenosis.II型糖原贮积病中人类酸性α-1,4-葡糖苷酶的免疫化学研究。

Enzyme. 1981;26(4):182-90. doi: 10.1159/000459173.

Study of alpha-D-glucosidase activity in patients with Pompe's disease.庞贝病患者α-D-葡萄糖苷酶活性的研究。

Taiwan Yi Xue Hui Za Zhi. 1986 Aug;85(8):766-70.

引用本文的文献

[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.

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 symptomatology, morphology and biochemistry of glycogenosis type II (Pompe) in the adult.成人II型糖原贮积病（庞贝病）的症状学、形态学及生物化学

J Neurol. 1976 Jun 14;212(3):237-52. doi: 10.1007/BF00314526.

Characterization of the molecular defect in infantile and adult acid alpha-glucosidase deficiency fibroblasts.婴儿和成人酸性α-葡萄糖苷酶缺乏症成纤维细胞分子缺陷的特征分析。

J Clin Invest. 1978 Dec;62(6):1264-74. doi: 10.1172/JCI109247.

本文引用的文献

alpha-Glucosidase deficiency in generalized glycogenstorage disease (Pompe's disease).全身性糖原贮积病（庞贝氏病）中的α-葡萄糖苷酶缺乏症。

Biochem J. 1963 Jan;86(1):11-6. doi: 10.1042/bj0860011.

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.

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.

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.

Late infantile acid maltase deficiency.晚发性婴儿酸性麦芽糖酶缺乏症

Arch Neurol. 1968 Jun;18(6):642-8. doi: 10.1001/archneur.1968.00470360064006.

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

Neurology. 1967 Jun;17(6):537-49. doi: 10.1212/wnl.17.6.537.

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 of myopathic form caused by acid maltase deficiency].[酸性麦芽糖酶缺乏引起的肌病型肌肉糖原贮积症]

Pediatrie. 1966 Jan-Feb;21(1):71-86.

[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.

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.

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