Hyperketonaemia in glycerol kinase deficiency.

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作者信息

Sjarif D R, Dorland L, Sperl W, de Koning T J, Beemer F A, Poll-The B T, Duran M

机构信息

Department of Pediatrics/Metabolic Diseases, Wilhelmina Children's Hospital, Utrecht, The Netherlands.

出版信息

J Inherit Metab Dis. 2000 Nov;23(7):760-4. doi: 10.1023/a:1005680211483.

DOI:10.1023/a:1005680211483

PMID:11117440

Abstract

摘要

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Hyperketonaemia in glycerol kinase deficiency.

J Inherit Metab Dis. 2000 Nov;23(7):760-4. doi: 10.1023/a:1005680211483.

Myopathic disorder associated with mitochondrial abnormalities, hyperglycaemia, and hyperketonaemia.与线粒体异常、高血糖症和高酮血症相关的肌病性疾病。

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Two cases of isolated glycerol kinase deficiency with heterogeneous neurological symptoms.两例伴有异质性神经症状的孤立性甘油激酶缺乏症。

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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.

Glycerol kinase deficiency: compartmental considerations regarding pathogenesis and clinical heterogeneity.甘油激酶缺乏症：关于发病机制和临床异质性的区室化考量

Adv Exp Med Biol. 1986;194:481-93. doi: 10.1007/978-1-4684-5107-8_36.

[Case of adrenal insufficiency, nonspecific myopathy, psychomotor retardation and glyceroluria--glycerol kinase deficiency?].[肾上腺功能不全、非特异性肌病、精神运动发育迟缓及甘油尿症病例——甘油激酶缺乏症？]

No To Hattatsu. 1984 Jul;16(4):328-9.

Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.X连锁甘油激酶缺乏症与X连锁先天性肾上腺发育不全的一致性。

Lancet. 1982 Oct 2;2(8301):733-6. doi: 10.1016/s0140-6736(82)90921-7.

The pattern of blood lipids, glycerol and ketone bodies during the neonatal period, infancy and childhood.新生儿期、婴儿期和儿童期血脂、甘油和酮体的模式。

Acta Paediatr Scand. 1966 Jul;55(4):353-62. doi: 10.1111/j.1651-2227.1966.tb08806.x.

Phenotypic features of patients with congenital adrenal hypoplasia and glycerol kinase deficiency.

Am J Dis Child. 1987 Jul;141(7):744-7. doi: 10.1001/archpedi.1987.04460070046020.

Glycerol kinase deficiency and adrenal hypoplasia congenita.甘油激酶缺乏症与先天性肾上腺发育不全。

J Inherit Metab Dis. 1997 Aug;20(4):609. doi: 10.1023/a:1005327713890.

引用本文的文献

Conserved family of glycerol kinase loci in Drosophila melanogaster.黑腹果蝇中甘油激酶基因座的保守家族。

Mol Genet Metab. 2006 Aug;88(4):334-45. doi: 10.1016/j.ymgme.2006.01.002. Epub 2006 Mar 20.

本文引用的文献

Clinical heterogeneity and novel mutations in the glycerol kinase gene in three families with isolated glycerol kinase deficiency.三个孤立性甘油激酶缺乏症家族中甘油激酶基因的临床异质性和新突变

J Med Genet. 1998 Aug;35(8):650-6. doi: 10.1136/jmg.35.8.650.

Changes in cerebral blood flow and carbohydrate metabolism during acute hyperketonemia.急性高酮血症期间脑血流量和碳水化合物代谢的变化。

Am J Physiol. 1996 May;270(5 Pt 1):E746-51. doi: 10.1152/ajpendo.1996.270.5.E746.

Human glycerol kinase deficiency: enzyme kinetics and fibroblast hybridization.

J Inherit Metab Dis. 1982;5(4):177-82. doi: 10.1007/BF02179133.

Deficiency of glycerol kinase (EC 2.7.1.30).甘油激酶（EC 2.7.1.30）缺乏症。

Clin Chem. 1983 Apr;29(4):718-22.

Regulation of hepatic fatty acid oxidation and ketone body production.肝脏脂肪酸氧化及酮体生成的调节。

Annu Rev Biochem. 1980;49:395-420. doi: 10.1146/annurev.bi.49.070180.002143.

3-Ketothiolase deficiency.3-酮硫解酶缺乏症

Eur J Pediatr. 1986 Apr;144(6):586-9. doi: 10.1007/BF00496042.

Hyperketotic states due to inherited defects of ketolysis.

Enzyme. 1987;38(1-4):80-90. doi: 10.1159/000469194.

The fasting test in paediatrics: application to the diagnosis of pathological hypo- and hyperketotic states.儿科禁食试验：在病理性低酮症和高酮症状态诊断中的应用

Eur J Pediatr. 1990 Dec;150(2):80-5. doi: 10.1007/BF02072043.

Do enzymatic analyses of serum triglycerides really need blanking for free glycerol?血清甘油三酯的酶法分析真的需要对游离甘油进行空白校正吗？

Clin Chem. 1990 Jul;36(7):1372-5.

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