一种伴有发作性呕吐、酸血症和昏迷的青少年型甘油激酶缺乏症。 - Suppr

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超能文献

A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor.

作者信息

Ginns E I, Barranger J A, McClean S W, Sliva C, Young R, Schaefer E, Goodman S I, McCabe E R

出版信息

J Pediatr. 1984 May;104(5):736-9. doi: 10.1016/s0022-3476(84)80956-7.

DOI:10.1016/s0022-3476(84)80956-7

PMID:6325658

Abstract

摘要

相似文献

A juvenile form of glycerol kinase deficiency with episodic vomiting, acidemia, and stupor.一种伴有发作性呕吐、酸血症和昏迷的青少年型甘油激酶缺乏症。

J Pediatr. 1984 May;104(5):736-9. doi: 10.1016/s0022-3476(84)80956-7.

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.

[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.

'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.

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.

Inherited Xp21 deletion in a boy with complex glycerol kinase deficiency syndrome.

Clin Genet. 1986 Jan;29(1):92-3. doi: 10.1111/j.1399-0004.1986.tb00777.x.

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.

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.

Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion.复杂型甘油激酶缺乏综合征被解释为X染色体缺失。

Clin Genet. 1985 May;27(5):522-3. doi: 10.1111/j.1399-0004.1985.tb00244.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.

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Glycerophospholipids: Roles in Cell Trafficking and Associated Inborn Errors.甘油磷脂：在细胞运输及相关先天性疾病中的作用

J Inherit Metab Dis. 2025 Mar;48(2):e70019. doi: 10.1002/jimd.70019.

Pharmacological interventions for the management of anesthesia and sedation in patients with Duchenne muscular dystrophy: a systematic review and meta-analysis.杜氏肌营养不良症患者麻醉和镇静管理的药理学干预：系统评价和荟萃分析

Front Med (Lausanne). 2025 Jan 27;12:1497538. doi: 10.3389/fmed.2025.1497538. eCollection 2025.

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.

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.

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.

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.

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