遗传性1,6-二磷酸果糖酶缺乏所致婴儿乳酸酸中毒 - Suppr

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Infantile lactic acidosis due to hereditary fructose 1,6-diphosphatase deficiency.

作者信息

Baerlocher K, Gitzelmann R, Nüssli R, Dumermuth G

出版信息

Helv Paediatr Acta. 1971 Dec;26(5):489-506.

PMID:4335192

Abstract

摘要

相似文献

Infantile lactic acidosis due to hereditary fructose 1,6-diphosphatase deficiency.遗传性1,6-二磷酸果糖酶缺乏所致婴儿乳酸酸中毒

Helv Paediatr Acta. 1971 Dec;26(5):489-506.

[Lactic acidosis, hypoglycemia and hepatomegaly due to hereditary defect in hepatic fructose-1, 6-diphosphatase].[由于肝脏果糖-1,6-二磷酸酶遗传性缺陷导致的乳酸性酸中毒、低血糖和肝肿大]

Arch Fr Pediatr. 1973 Jun-Jul;30(6):609-32.

[Neonatal lactic acidosis and hypoglycemia due to a congenital hepatic fructose-1,6-diphosphatase deficiency].先天性肝果糖-1,6-二磷酸酶缺乏所致新生儿乳酸酸中毒和低血糖症

Arch Fr Pediatr. 1975 Apr;32(4):367-80.

Hepatic fructose-1,6-diphosphatase deficiency. A cause of lactic acidosis and hypoglycemia in infancy.肝果糖-1,6-二磷酸酶缺乏症。婴儿期乳酸酸中毒和低血糖的一个病因。

J Clin Invest. 1972 Aug;51(8):2115-23. doi: 10.1172/JCI107018.

[Hypoglycemia and metabolic acidosis with fructose 1-6 diphosphatase deficiency].[果糖1-6二磷酸酶缺乏症伴低血糖和代谢性酸中毒]

Pediatrie. 1971 Mar;26(2):223-5.

[Baker-Winegrad disease (hepatomegaly, hypoglycemia during fasting, hyperlactacidemic metabolic acidosis, hepatic fructose-1-6-diphosphatase deficiency). Presentation of the 1st Italian case and pathogenetic hypothesis].[贝克-瓦恩格拉德病（肝肿大、空腹低血糖、高乳酸血症性代谢性酸中毒、肝果糖-1,6-二磷酸酶缺乏症）。首例意大利病例报告及发病机制假说]

Minerva Pediatr. 1978 Dec 31;30(24):1973-86.

Metabolic and biochemical studies in fructose 1,6-diphosphatase deficiency.1,6-二磷酸果糖酶缺乏症的代谢与生化研究

J Pediatr. 1973 Apr;82(4):650-7. doi: 10.1016/s0022-3476(73)80591-8.

[Histological study of the liver in congenital fructose intolerance under diet therapy].[饮食疗法下先天性果糖不耐受症肝脏的组织学研究]

Monatsschr Kinderheilkd (1902). 1970 Jun;118(6):257-8.

Detection of fructose-1,6-diphosphatase deficiency with use of white blood cells.利用白细胞检测1,6-二磷酸果糖酶缺乏症

N Engl J Med. 1972 Mar 30;286(13):731-2. doi: 10.1056/NEJM197203302861322.

[Postoperative fructose infusion in a case of presumed hereditary fructose intolerance (author's transl)].[疑似遗传性果糖不耐受病例的术后果糖输注（作者译）]

Wien Klin Wochenschr. 1978 Mar 31;90(7):237-40.

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J Clin Invest. 2018 Jun 1;128(6):2226-2238. doi: 10.1172/JCI94427. Epub 2018 Apr 23.

Richard Gitzelmann (23rd February 1930--31st October 2013).理查德·吉策尔曼（1930年2月23日——2013年10月31日）。

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Effect of administration of the fructose on the glycogenolytic action of glucagon. An investigation of the pathogeny of hereditary fructose intolerance. administration of fructose 对胰高血糖素的糖原分解作用的影响。遗传性果糖不耐受发病机制的研究。

Biochem J. 1973 Jun;134(2):637-45. doi: 10.1042/bj1340637.

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.

Pharmaceutical excipients. Adverse effects associated with 'inactive' ingredients in drug products (Part II).药用辅料。药品中与“非活性”成分相关的不良反应（第二部分）。

Med Toxicol Adverse Drug Exp. 1988 May-Jun;3(3):209-40. doi: 10.1007/BF03259883.

Fructose-1,6-diphosphatase deficiency: glycerol excretion during fasting test.果糖-1,6-二磷酸酶缺乏症：禁食试验期间的甘油排泄

Eur J Pediatr. 1985 Jul;144(2):203-4. doi: 10.1007/BF00451915.

Fructose and glucagon loading in siblings with fructose-1,6-diphosphatase deficiency in fed state.

J Inherit Metab Dis. 1992;15(5):720-2. doi: 10.1007/BF01800012.

Hereditary tyrosinaemia. Clinical, enzymatic, and pathological study of an infant with the acute form of the disease.遗传性酪氨酸血症。一名患有该病急性形式的婴儿的临床、酶学及病理学研究。

Arch Dis Child. 1976 Feb;51(2):106-13. doi: 10.1136/adc.51.2.106.

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