A six-month-old infant with liver steatosis.
作者信息
Stormon Michael O, Cutz Ernest, Furuya Katryn, Bedford Melanie, Yerkes Laura, Tolan Dean R, Feigenbaum Annette
机构信息
Department of Pediatric Laboratory Medicine, The Hospital for Sick Children, University of Toronto, Ontario, Canada.
出版信息
J Pediatr. 2004 Feb;144(2):258-63. doi: 10.1016/j.jpeds.2003.11.037.
Abstract
摘要
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J Pediatr. 2004 Feb;144(2):258-63. doi: 10.1016/j.jpeds.2003.11.037.
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Structural and functional analysis of aldolase B mutants related to hereditary fructose intolerance.与遗传性果糖不耐受相关的醛缩酶B突变体的结构与功能分析
FEBS Lett. 2002 Nov 6;531(2):152-6. doi: 10.1016/s0014-5793(02)03451-8.
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Activation of liver pyruvate kinase by fructose-1-phosphate.1-磷酸果糖对肝丙酮酸激酶的激活作用。
FEBS Lett. 1970 Jan 15;6(1):43-45. doi: 10.1016/0014-5793(70)80038-2.
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Features of carnitine palmitoyltransferase type I deficiency.I型肉碱棕榈酰转移酶缺乏症的特征。
J Inherit Metab Dis. 2001 Feb;24(1):35-42. doi: 10.1023/a:1005694320063.
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Expression, purification, and characterization of natural mutants of human aldolase B. Role of quaternary structure in catalysis.人醛缩酶B天然突变体的表达、纯化及特性研究。四级结构在催化中的作用。
J Biol Chem. 2000 Jan 14;275(2):1145-51. doi: 10.1074/jbc.275.2.1145.
5
Severe hypoglycemia as a presenting symptom of carbohydrate-deficient glycoprotein syndrome.严重低血糖作为糖蛋白缺乏综合征的首发症状。
J Pediatr. 1999 Dec;135(6):775-81. doi: 10.1016/s0022-3476(99)70103-4.
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Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose.高胰岛素血症性低血糖作为磷酸甘露糖异构酶缺乏症的首发症状：一种可通过甘露糖治疗的糖蛋白缺乏综合征的新表现。
J Pediatr. 1999 Sep;135(3):379-83. doi: 10.1016/s0022-3476(99)70139-3.
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Coagulation abnormalities in the carbohydrate-deficient glycoprotein syndrome: case report and review of the literature.碳水化合物缺乏糖蛋白综合征中的凝血异常：病例报告及文献综述
Am J Hematol. 1999 Jan;60(1):66-9. doi: 10.1002/(sici)1096-8652(199901)60:1<66::aid-ajh11>3.0.co;2-d.
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Abnormal surface expression of sialoglycans on B lymphocyte cell lines from patients with carbohydrate deficient glycoprotein syndrome I A (CDGS I A).碳水化合物缺乏糖蛋白综合征I A（CDGS I A）患者B淋巴细胞系上唾液酸聚糖的异常表面表达。
Glycobiology. 1998 Oct;8(10):963-72. doi: 10.1093/glycob/8.10.963.
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Hereditary fructose intolerance.遗传性果糖不耐受症
J Med Genet. 1998 May;35(5):353-65. doi: 10.1136/jmg.35.5.353.
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Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation.磷酸甘露糖异构酶缺乏症：一种以肝肠表现为主的碳水化合物缺乏糖蛋白综合征。
Am J Hum Genet. 1998 Jun;62(6):1535-9. doi: 10.1086/301873.
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