对六名患有不同表型磷酸化酶激酶缺乏症患者的淋巴细胞和红细胞进行酶分析。 - Suppr

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超能文献

Enzymatic analysis in lymphocytes and erythrocytes from six patients with different phenotypes of phosphorylase kinase deficiency.

作者信息

Kikuchi M, Aikawa J, Ishizawa S, Igarashi Y, Narisawa K, Tada K

机构信息

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan.

出版信息

J Inherit Metab Dis. 1988;11(3):315-8. doi: 10.1007/BF01800383.

DOI:10.1007/BF01800383

PMID:3148080

Abstract

摘要

相似文献

Enzymatic analysis in lymphocytes and erythrocytes from six patients with different phenotypes of phosphorylase kinase deficiency.对六名患有不同表型磷酸化酶激酶缺乏症患者的淋巴细胞和红细胞进行酶分析。

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Neonatal-onset severe recurrent hypoglycaemia in an infant with hepatic phosphorylase kinase deficiency with normal enzyme activity in erythrocytes.一名患有肝磷酸化酶激酶缺乏症的婴儿出现新生儿期起病的严重复发性低血糖，但其红细胞中的酶活性正常。

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Autosomal recessive phosphorylase kinase deficiency in liver, caused by mutations in the gene encoding the beta subunit (PHKB).由编码β亚基（PHKB）的基因突变引起的肝脏常染色体隐性磷酸化酶激酶缺乏症。

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Phosphorylase kinase in leukocytes and erythrocytes of a patient with glycogen storage disease type IX.IX型糖原贮积病患者白细胞和红细胞中的磷酸化酶激酶

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引用本文的文献

In Silico characterization of phosphorylase kinase: evidence for an alternate intronic polyadenylation site in PHKG1.磷酸化酶激酶的计算机模拟表征：PHKG1中一个替代性内含子聚腺苷酸化位点的证据。

Mol Genet Metab. 2007 Nov;92(3):234-42. doi: 10.1016/j.ymgme.2007.06.015. Epub 2007 Aug 9.

Phosphorylase b kinase deficiency in man: a review.人类磷酸化酶b激酶缺乏症：综述

J Inherit Metab Dis. 1990;13(4):442-51. doi: 10.1007/BF01799501.

本文引用的文献

A new variant of glycogen storage disease. Type IXc.

Am J Dis Child. 1982 May;136(5):406-10. doi: 10.1001/archpedi.1982.03970410024004.

Glycogenosis due to liver and muscle phosphorylase kinase deficiency.由于肝脏和肌肉磷酸化酶激酶缺乏引起的糖原贮积病。

Pediatr Res. 1981 Apr;15(4 Pt 1):299-303. doi: 10.1203/00006450-198104000-00002.

Glycogen-storage disease Type VIa: low phosphorylase kinase activity caused by a low enzyme-substrate affinity.

Biochim Biophys Acta. 1970 Apr 22;206(1):199-201. doi: 10.1016/0005-2744(70)90102-6.

Phosphorylase kinase of the liver: deficiency in a girl with increased hepatic glycogen.肝脏磷酸化酶激酶：一名肝糖原增加女童的缺乏症

Science. 1966 Sep 23;153(3743):1534-5. doi: 10.1126/science.153.3743.1534.

Lymphocyte phosphorylase kinase activities in the sex-linked form of liver phosphorylase kinase deficiency.

Eur J Pediatr. 1985 Jan;143(3):179-82. doi: 10.1007/BF00442132.

Adult muscle phosphorylase "b" kinase deficiency.成人肌肉磷酸化酶“b”激酶缺乏症。

Neurology. 1986 Apr;36(4):560-2. doi: 10.1212/wnl.36.4.560.

Phosphorylase kinase from human polymorphonuclear leukocytes.

Biochim Biophys Acta. 1979 May 10;568(1):215-23. doi: 10.1016/0005-2744(79)90288-2.

Glycogen phosphorylase and its converter enzymes in haemolysates of normal human subjects and of patients with type VI glycogen-storage disease. A study of phosphorylase kinase deficiency.正常人及Ⅵ型糖原贮积病患者溶血产物中的糖原磷酸化酶及其转换酶。磷酸化酶激酶缺乏症的研究。

Biochem J. 1975 Apr;147(1):23-35. doi: 10.1042/bj1470023.

Inactivation and reactivation of liver phosphorylase b kinase.

Biochim Biophys Acta. 1977 Apr 12;481(2):463-70. doi: 10.1016/0005-2744(77)90279-0.

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