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Infantile Hypoglycaemia due to Inherited Deficiency of Glycogen Synthetase in Liver.

作者信息

Lewis G M, Spencer-Peet J, Stewart K M

出版信息

Arch Dis Child. 1963 Feb;38(197):40-8. doi: 10.1136/adc.38.197.40.

DOI:10.1136/adc.38.197.40
PMID:21032403
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2019050/
Abstract
摘要

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World J Gastroenterol. 2023 Jul 7;29(25):3932-3963. doi: 10.3748/wjg.v29.i25.3932.
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Novel mutations in a Japanese patient with glycogen storage disease type 0a.一名日本糖原贮积病0a型患者的新突变
Mol Genet Metab Rep. 2021 Jan 10;26:100702. doi: 10.1016/j.ymgmr.2020.100702. eCollection 2021 Mar.
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Three successful pregnancies in a patient with glycogen storage disease type 0.0型糖原贮积病患者成功妊娠三次。

本文引用的文献

1
The response of blood glucose, ketones, and plasma nonesterified fatty acids to fasting and epinephrine injection in infants and children.
J Pediatr. 1961 Dec;59:836-47. doi: 10.1016/s0022-3476(61)80314-4.
2
Chronic progressive myopathy with myoglobinuria: demonstration of a glycogenolytic defect in the muscle.伴有肌红蛋白尿的慢性进行性肌病：肌肉中糖原分解缺陷的证明
J Clin Invest. 1959 Nov;38(11):2044-58. doi: 10.1172/JCI103983.
3
Adrenaline excretion during resting conditions and after insulin in adrenalectomized human subjects.肾上腺切除的人体受试者在静息状态下及注射胰岛素后的肾上腺素排泄情况。
JIMD Rep. 2020 Oct 26;57(1):38-43. doi: 10.1002/jmd2.12178. eCollection 2021 Jan.
4
Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models.糖原贮积病的临床前研究：当前动物模型的综合综述。
Int J Mol Sci. 2020 Dec 17;21(24):9621. doi: 10.3390/ijms21249621.
5
A patient with glycogen storage disease type 0 and a novel sequence variant in : a case report and literature review.一名患有0型糖原贮积病且存在新型序列变异的患者：病例报告及文献综述
J Int Med Res. 2020 Aug;48(8):300060520936857. doi: 10.1177/0300060520936857.
6
PERSISTENT ASYMPTOMATIC SEVERE HYPOGLYCAEMIA DUE TO TYPE 0A GLYCOGENOSIS - GENERAL AND ORO-DENTAL ASPECTS.0A型糖原贮积病所致持续性无症状严重低血糖症——全身及口腔方面
Acta Endocrinol (Buchar). 2019 Oct-Dec;15(4):526-530. doi: 10.4183/aeb.2019.526.
7
Metabolic Systems and the Inherited Diseases of Man.代谢系统与人类遗传性疾病
J R Coll Physicians Lond. 1968 Oct;3(1):5-24.
8
Pediatric patient with hyperketotic hypoglycemia diagnosed with glycogen synthase deficiency due to the novel homozygous mutation in GYS2.因GYS2基因新的纯合突变被诊断为糖原合酶缺乏症的小儿高酮血症低血糖患者。
Mol Genet Metab Rep. 2015 Aug 24;4:83-6. doi: 10.1016/j.ymgmr.2015.07.003. eCollection 2015 Sep.
9
Glycogen storage diseases: new perspectives.糖原贮积病：新观点
World J Gastroenterol. 2007 May 14;13(18):2541-53. doi: 10.3748/wjg.v13.i18.2541.
10
Hepatic glycogen synthase deficiency: an infrequently recognized cause of ketotic hypoglycemia.肝糖原合酶缺乏症：一种较少被认识到的酮症性低血糖病因。
Mol Genet Metab. 2006 Apr;87(4):284-8. doi: 10.1016/j.ymgme.2005.10.006. Epub 2005 Dec 6.
Acta Endocrinol (Copenh). 1961 Nov;38:441-8. doi: 10.1530/acta.0.0380441.
4
Glucose utilization by erythrocytes from muscular dystrophy patients.
Clin Chim Acta. 1960 Sep;5:766-8. doi: 10.1016/0009-8981(60)90022-x.
5
Recognition and investigation of hypoglycemia.
J Pediatr. 1961 Jun;58:864-75. doi: 10.1016/s0022-3476(61)80144-3.
6
Studies on the mechanism of action of the adrenocorticotropic hormone.促肾上腺皮质激素作用机制的研究。
J Biol Chem. 1957 Mar;225(1):115-24.
7
Spontaneous hypoglycemia.
Am J Med. 1955 Sep;19(3):460-78. doi: 10.1016/0002-9343(55)90130-3.
8
Indirect analysis of corticosteroids. I. The determination of 17-hydroxycorticosteroids.皮质类固醇的间接分析。I. 17-羟皮质类固醇的测定。
Biochem J. 1955 Jul;60(3):453-60. doi: 10.1042/bj0600453.
9
Idiopathic spontaneously occurring hypoglycemia in infants; clinical significance of problem and treatment.婴儿特发性自发性低血糖症；问题的临床意义及治疗
AMA Am J Dis Child. 1954 Apr;87(4):399-428.
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Glucose-6-phosphatase of the liver in glycogen storage disease.糖原贮积病中肝脏的葡萄糖-6-磷酸酶
J Biol Chem. 1952 Dec;199(2):661-7.