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[Pseudohypertriglyceridemia in glycerokinase deficiency].

作者信息

Wirth A, Heuck C C, Bieger W, Schlierf G

出版信息

Dtsch Med Wochenschr. 1985 May 24;110(21):843-7. doi: 10.1055/s-2008-1068916.

DOI:10.1055/s-2008-1068916
PMID:2986935
Abstract

Falsely high serum triglyceride concentrations (410-850 mg/dl) were measured in four members of a family of five from Franconia in Germany. The cause was hyperglyceridaemia on the basis of glycerol kinase deficiency. None had any symptoms and no other metabolic anomaly was demonstrated. The possibility of glycerol kinase deficiency should be considered in any case of elevated serum triglyceride concentration but with clear serum, normal lipid electrophoresis and lack of response to lipid-lowering measures.

摘要

相似文献

1
[Pseudohypertriglyceridemia in glycerokinase deficiency].
Dtsch Med Wochenschr. 1985 May 24;110(21):843-7. doi: 10.1055/s-2008-1068916.
2
[Pseudohypertriglyceridemia due to hyperglycerolemia caused by glycerol kinase deficiency].[甘油激酶缺乏所致高甘油血症引起的假性高甘油三酯血症]
Nouv Presse Med. 1982 Apr 24;11(19):1498-9.
3
Liver glycerokinase deficiency in man with hyperglycerolaemia and hypertriglyceridaemia.患有高甘油血症和高甘油三酯血症的人类肝脏甘油激酶缺乏症。
Eur J Clin Invest. 1984 Apr;14(2):103-6. doi: 10.1111/j.1365-2362.1984.tb02096.x.
4
'Pseudohypertriglyceridemia' caused by hyperglycerolemia due to congenital enzyme deficiency.由先天性酶缺乏导致的高甘油血症引起的“假性高甘油三酯血症”
Clin Chim Acta. 1982 Aug 18;123(3):269-74. doi: 10.1016/0009-8981(82)90171-1.
5
[Prenatal diagnosis of X-linked adrenal hypoplasia associated with glycerol kinase deficiency].
J Genet Hum. 1989 Jun;37(2):155-62.
6
[Glycerol kinase deficiency].[甘油激酶缺乏症]
Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):678-81.
7
Human glycerol kinase deficiency with hyperglycerolemia and glyceroluria.伴有高甘油血症和甘油尿症的人类甘油激酶缺乏症。
Biochem Biophys Res Commun. 1977 Oct 24;78(4):1327-33. doi: 10.1016/0006-291x(77)91437-1.
8
Glycerol kinase deficiency with neuromuscular, skeletal, and adrenal abnormalities.伴有神经肌肉、骨骼和肾上腺异常的甘油激酶缺乏症。
Ann Neurol. 1980 May;7(5):441-9. doi: 10.1002/ana.410070509.
9
Glycerol kinase deficiency inhibits glycerol utilization in phosphoglyceride and triacylglycerol biosynthesis.甘油激酶缺乏会抑制甘油在磷酸甘油酯和三酰甘油生物合成中的利用。
Pediatr Res. 1985 Mar;19(3):313-4. doi: 10.1203/00006450-198503000-00012.
10
Complex glycerol kinase deficiency: molecular-genetic, cytogenetic, and clinical studies of five Japanese patients.复杂型甘油激酶缺乏症:5例日本患者的分子遗传学、细胞遗传学及临床研究
Am J Med Genet. 1988 Nov;31(3):603-16. doi: 10.1002/ajmg.1320310315.

引用本文的文献

1
Gestational Diabetes Associated with a Novel Mutation (378-379insTT) in the Glycerol Kinase Gene.妊娠糖尿病与甘油激酶基因中的一种新型突变(378-379insTT)相关。
Mol Genet Metab Rep. 2015 Sep 1;4:42-45. doi: 10.1016/j.ymgmr.2015.06.004.
2
Isolated and contiguous glycerol kinase gene disorders: a review.孤立性和连续性甘油激酶基因疾病:综述
J Inherit Metab Dis. 2000 Sep;23(6):529-47. doi: 10.1023/a:1005660826652.
3
Mutations and phenotype in isolated glycerol kinase deficiency.孤立性甘油激酶缺乏症中的突变与表型
Am J Hum Genet. 1996 Jun;58(6):1205-11.
4
Congenital adrenal hypoplasia, myopathy, and glycerol kinase deficiency: molecular genetic evidence for deletions.先天性肾上腺发育不全、肌病与甘油激酶缺乏症:缺失的分子遗传学证据
Am J Hum Genet. 1987 Mar;40(3):212-27.
5
Infantile glycerol kinase deficiency--a condition requiring prompt identification. Clinical, biochemical, and morphological findings in two cases.婴儿型甘油激酶缺乏症——一种需要及时识别的病症。两例病例的临床、生化及形态学表现
Eur J Pediatr. 1987 Nov;146(6):575-81. doi: 10.1007/BF02467357.