复杂型甘油激酶缺乏综合征被解释为X染色体缺失。 - Suppr

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Complex glycerol kinase deficiency syndrome explained as X-chromosomal deletion.

作者信息

Wieringa B, Hustinx T, Scheres J, Renier W, ter Haar B

出版信息

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

DOI:10.1111/j.1399-0004.1985.tb00244.x

PMID:2988829

Abstract

摘要

相似文献

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.

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

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Congenital adrenal hypoplasia and glycerol kinase deficiency.

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Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal insufficiency associated with Xp21 interstitial deletion.

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A case with the infantile type of glycerol kinase deficiency.一例婴儿型甘油激酶缺乏症病例。

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Deletion on the X chromosome detected by direct DNA analysis in one of two unrelated boys with glycerol kinase deficiency, adrenal hypoplasia, and Duchenne muscular dystrophy.

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Prenatal diagnosis of glycerol-kinase deficiency associated with a DNA deletion on the short arm of the X-chromosome.与X染色体短臂DNA缺失相关的甘油激酶缺乏症的产前诊断。

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[Glycerol kinase deficiency].[甘油激酶缺乏症]

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Aland Island eye disease (Forsius-Eriksson ocular albinism) and an Xp21 deletion in a patient with Duchenne muscular dystrophy, glycerol kinase deficiency, and congenital adrenal hypoplasia.阿兰岛眼病（福修斯-埃里克森眼部白化病）与一名患有杜氏肌营养不良、甘油激酶缺乏症和先天性肾上腺发育不全患者的Xp21缺失。

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Fine mapping of glycerol kinase deficiency and congenital adrenal hypoplasia within Xp21 on the short arm of the human X chromosome.人类X染色体短臂Xp21区域内甘油激酶缺乏症和先天性肾上腺发育不全的精细定位。

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引用本文的文献

Xp21 contiguous gene deletion syndrome presenting as Duchenne muscular dystrophy and glycerol kinase deficiency associated with intellectual disability: case report and review literature.Xp21 连续基因缺失综合征表现为杜氏肌营养不良症和与智力残疾相关的甘油激酶缺乏症：病例报告和文献复习。

Acta Myol. 2023 Mar 31;42(1):24-30. doi: 10.36185/2532-1900-246. eCollection 2023.

[Recurrent anorexia and pigmentation of skin for more than two months in an infant].[一名婴儿反复厌食及皮肤色素沉着超过两个月]

Zhongguo Dang Dai Er Ke Za Zhi. 2017 Aug;19(8):926-929. doi: 10.7499/j.issn.1008-8830.2017.08.015.

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.

An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region.男性X染色体的间质重复可对来自Xq13-q22区域的探针进行物理精细定位。

Hum Genet. 1987 Sep;77(1):23-7. doi: 10.1007/BF00284707.

DNA studies in a family with Duchenne muscular dystrophy and a deletion at Xp21.对一个患有杜氏肌营养不良且Xp21存在缺失的家族进行的DNA研究。

Am J Hum Genet. 1987 Aug;41(2):128-37.

Regional localisation of X chromosome short arm probes.

Hum Genet. 1986 Oct;74(2):155-9. doi: 10.1007/BF00282079.

Molecular analysis of male-viable deletions and duplications allows ordering of 52 DNA probes on proximal Xq.对雄性存活缺失和重复进行分子分析，可对Xq近端的52个DNA探针进行排序。

Am J Hum Genet. 1988 Oct;43(4):452-61.

X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome.由于类固醇硫酸酯酶缺乏所致的X连锁鱼鳞病，与卡尔曼综合征（促性腺激素缺乏性性腺功能减退和嗅觉缺失）相关：与Xg以及来自X染色体短臂远端的克隆DNA序列的连锁关系。

Hum Genet. 1986 Mar;72(3):237-40. doi: 10.1007/BF00291885.

Localization of the gene for X-linked recessive type of retinitis pigmentosa (XLRP) to Xp21 by linkage analysis.通过连锁分析将X连锁隐性型视网膜色素变性（XLRP）的基因定位到Xp21。

Am J Hum Genet. 1988 Oct;43(4):484-94.

Deletion proximal to DXS68 locus (L1 probe site) in a boy with Duchenne muscular dystrophy, glycerol kinase deficiency, and adrenal hypoplasia.一名患有杜氏肌营养不良症、甘油激酶缺乏症和肾上腺发育不全的男孩，其DXS68位点（L1探针位点）近端存在缺失。

Hum Genet. 1988 Mar;78(3):222-7. doi: 10.1007/BF00291665.

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