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。 - Suppr

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超能文献

Concordance of X-linked glycerol kinase deficiency with X-linked congenital adrenal hypoplasia.

作者信息

Bartley J A, Miller D K, Hayford J T, McCabe E R

出版信息

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

DOI:10.1016/s0140-6736(82)90921-7

PMID:6125810

Abstract

摘要

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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.

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。

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

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[Prenatal diagnosis of X-linked adrenal hypoplasia associated with glycerol kinase deficiency].

J Genet Hum. 1989 Jun;37(2):155-62.

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

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Congenital adrenal hypoplasia and glycerol kinase deficiency.

Acta Paediatr Scand. 1989 Nov;78(6):893-5. doi: 10.1111/j.1651-2227.1989.tb11170.x.

[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？]

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Congenital adrenal hypoplasia, progressive muscular dystrophy, and severe mental retardation, in association with glycerol kinase deficiency, in male sibs.

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Human glycerol kinase deficiency: an inborn error of compartmental metabolism.

Biochem Med. 1983 Oct;30(2):215-30. doi: 10.1016/0006-2944(83)90088-1.

引用本文的文献

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.

Adrenal hypoplasia congenita with hypogonadotropic hypogonadism: evidence that DAX-1 mutations lead to combined hypothalmic and pituitary defects in gonadotropin production.先天性肾上腺发育不全伴低促性腺激素性性腺功能减退：DAX-1 突变导致促性腺激素产生中下丘脑和垂体联合缺陷的证据。

J Clin Invest. 1996 Aug 15;98(4):1055-62. doi: 10.1172/JCI118866.

Human and rat adrenal glycerol kinase: subcellular distribution and bisubstrate kinetics.人和大鼠肾上腺甘油激酶：亚细胞分布及双底物动力学

Mol Cell Biochem. 1984 Apr;62(1):43-50. doi: 10.1007/BF00230076.

Subcellular distribution and kinetic properties of soluble and particulate-associated bovine adrenal glycerol kinase.可溶性及颗粒相关牛肾上腺甘油激酶的亚细胞分布和动力学特性

Mol Cell Biochem. 1984 Sep;64(1):51-61. doi: 10.1007/BF00420928.

Recently recognized chromosomal defects of clinical importance.近期发现的具有临床重要性的染色体缺陷。

Postgrad Med J. 1986 Feb;62(724):131-42. doi: 10.1136/pgmj.62.724.131.

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.

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.

Characterization of patients with glycerol kinase deficiency utilizing cDNA probes for the Duchenne muscular dystrophy locus.利用针对杜氏肌营养不良症基因座的cDNA探针来鉴定甘油激酶缺乏症患者。

Hum Genet. 1989 Sep;83(2):122-6. doi: 10.1007/BF00286703.

Progressive high frequency hearing loss: an additional feature in the syndrome of congenital adrenal hypoplasia and gonadotrophin deficiency.进行性高频听力损失：先天性肾上腺发育不全和促性腺激素缺乏综合征的一个附加特征。

Eur J Pediatr. 1992 Mar;151(3):167-9. doi: 10.1007/BF01954375.

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