• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

Phosphorylase kinase in leukocytes and erythrocytes of a patient with glycogen storage disease type IX.

作者信息

Bashan N, Potashnik R, Ehrlich T, Moses S W

机构信息

Paediatric Research Laboratory, Soroka Medical Centre, Israel.

出版信息

J Inherit Metab Dis. 1987;10(2):119-27. doi: 10.1007/BF01800035.

DOI:10.1007/BF01800035
PMID:3116330
Abstract
摘要

相似文献

1
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
J Inherit Metab Dis. 1987;10(2):119-27. doi: 10.1007/BF01800035.
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.
3
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.
4
Glycogen storage disease type IX: novel PHKA2 missense mutation and cirrhosis.IX型糖原贮积病：新型PHKA2错义突变与肝硬化
J Pediatr Gastroenterol Nutr. 2012 Jul;55(1):90-2. doi: 10.1097/MPG.0b013e31823276ea.
5
Phosphorylase b kinase deficiency in glycogenosis type VIII: differentiation of different phenotypes and heterozygotes by erythrocyte enzyme assay.
J Inherit Metab Dis. 1987;10(2):115-8. doi: 10.1007/BF01800034.
6
Factor XI and phosphorylase b kinase deficiency.
J Inherit Metab Dis. 1995;18(1):89-90. doi: 10.1007/BF00711386.
7
Localization of a new type of X-linked liver glycogenosis to the chromosomal region Xp22 containing the liver alpha-subunit of phosphorylase kinase (PHKA2).一种新型X连锁肝糖原贮积症定位于染色体区域Xp22，该区域含有磷酸化酶激酶（PHKA2）的肝脏α亚基。
Genomics. 1994 Jun;21(3):620-5. doi: 10.1006/geno.1994.1322.
8
Studies in glycogen storage disease. IV. Leukocyte phosphorylase in a family with type VI GSD.糖原贮积病的研究。IV. 患有VI型糖原贮积病的一个家族中的白细胞磷酸化酶
Metabolism. 1970 Mar;19(3):238-45. doi: 10.1016/0026-0495(70)90058-2.
9
PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature.IXc型糖原贮积病中的PHKG2基因突变谱：一例报告及文献复习
J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):331-338. doi: 10.1515/jpem-2017-0170.
10
Hepatic phosphorylase b kinase deficiency with normal enzyme activity in erythrocytes and muscle.红细胞和肌肉中酶活性正常的肝磷酸化酶b激酶缺乏症。
J Inherit Metab Dis. 1994;17(1):116-7. doi: 10.1007/BF00735410.

引用本文的文献

1
Understanding Glycogen Storage Disease Type IX: A Systematic Review with Clinical Focus-Why It Is Not Benign and Requires Vigilance.了解IX型糖原贮积病：一项以临床为重点的系统评价——为何它并非良性且需要警惕。
Genes (Basel). 2025 May 15;16(5):584. doi: 10.3390/genes16050584.
2
A rare variant (p.G991A) identified in a patient with ketotic hypoglycemia.在一名酮症性低血糖患者中鉴定出一种罕见变异（p.G991A）。
JIMD Rep. 2019 May 28;48(1):15-18. doi: 10.1002/jmd2.12041. eCollection 2019 Jul.
3
Evaluation of glycogen storage disease as a cause of ketotic hypoglycemia in children.

本文引用的文献

1
Protein measurement with the Folin phenol reagent.使用福林酚试剂进行蛋白质测定。
J Biol Chem. 1951 Nov;193(1):265-75.
2
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.
3
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.
评估糖原贮积病作为儿童酮症性低血糖病因的情况。
J Inherit Metab Dis. 2015 May;38(3):489-93. doi: 10.1007/s10545-014-9744-1. Epub 2014 Jul 29.
4
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.
5
Myopathic evolution of an exertional muscle pain syndrome with phosphorylase b kinase deficiency.伴有磷酸化酶b激酶缺乏的劳力性肌肉疼痛综合征的肌病性演变。
Acta Neuropathol. 1990;81(1):84-8. doi: 10.1007/BF00662642.
6
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.
4
Patterns of amino acid efflux from isolated normal and cystinotic human leucocyte lysosomes.从分离出的正常和胱氨酸病患者的人白细胞溶酶体中氨基酸流出的模式。
J Biol Chem. 1982 Jun 10;257(11):6041-9.
5
Liver glycogenosis caused by a defective phosphorylase system: hemolysate analysis.由缺陷性磷酸化酶系统引起的肝糖原累积症：溶血产物分析
Pediatrics. 1981 Jan;67(1):107-12.
6
Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency.一名患有磷酸化酶激酶缺乏症女孩的婴儿型糖原贮积性肌病。
Neurology. 1982 Aug;32(8):833-8. doi: 10.1212/wnl.32.8.833.
7
The autosomal form of phosphorylase kinase deficiency in man: reduced activity of the muscle enzyme.
Biochem Biophys Res Commun. 1980 Jan 15;92(1):169-74. doi: 10.1016/0006-291x(80)91535-1.
8
[Erythrocyte isolation from blood with cotton].[用棉花从血液中分离红细胞]
Klin Wochenschr. 1966 Aug 15;44(16):983-4. doi: 10.1007/BF01711475.
9
Deficient activity of dephosphophosphorylase kinase and accumulation of glycogen in the liver.脱磷酸磷酸化酶激酶活性不足与肝脏中糖原积累
J Clin Invest. 1969 Apr;48(4):704-15. doi: 10.1172/JCI106028.
10
Laboratory diagnosis of glycogen diseases.
Adv Clin Chem. 1967;9:227-354. doi: 10.1016/s0065-2423(08)60289-9.