Hepatic glycogen synthetase deficiency.
出版信息
Arch Dis Child. 1973 Feb;48(2):164-5.
Abstract
摘要
相似文献
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Hepatic glycogen synthetase deficiency.肝糖原合成酶缺乏症。
Arch Dis Child. 1973 Feb;48(2):164-5.
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[Hepatic glycogen synthetase deficiency or glycogen storage disease-zero. Mild phenotype with partial enzymatic defect].[肝糖原合成酶缺乏症或糖原贮积病0型。具有部分酶缺陷的轻度表型]
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引用本文的文献
1
Liver glycogen synthase deficiency: a rarely diagnosed entity.肝糖原合酶缺乏症：一种罕见的诊断疾病。
Eur J Pediatr. 1996 Jul;155(7):561-7. doi: 10.1007/BF01957905.
本文引用的文献
1
Phosphorylase kinase deficiency.磷酸化酶激酶缺乏症。
Biochem Genet. 1970 Feb;4(1):187-94. doi: 10.1007/BF00484029.
2
A screening method for liver glycogen diseases.一种肝糖原疾病的筛查方法。
Arch Dis Child. 1969 Jun;44(235):311-7. doi: 10.1136/adc.44.235.311.
3
Pathogenesis of Leigh's encephalomyelopathy.Leigh 脑脊髓病的发病机制。
J Pediatr. 1972 Jul;81(1):189-90. doi: 10.1016/s0022-3476(72)80428-1.
4
Biochemical studies and therapy in subacute necrotizing encephalomyelopathy (Leigh's syndrome).亚急性坏死性脑脊髓病（ Leigh 综合征）的生化研究与治疗
J Pediatr. 1972 Jul;81(1):39-44. doi: 10.1016/s0022-3476(72)80371-8.
5
Hepatic glycogen synthetase deficiency. Further studies on a family.肝糖原合成酶缺乏症。对一个家族的进一步研究。
Arch Dis Child. 1972 Aug;47(254):558-63. doi: 10.1136/adc.47.254.558.
6
Fasting hypoglycaemia and metabolic acidosis associated with deficiency of hepatic fructose-1,6-diphosphatase activity.与肝果糖-1,6-二磷酸酶活性缺乏相关的空腹低血糖和代谢性酸中毒。
Lancet. 1970 Jul 4;2(7662):13-6. doi: 10.1016/s0140-6736(70)92474-8.
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