类固醇硫酸酯酶缺乏症存在于患有“鱼鳞病和男性性腺功能减退综合征”以及“鲁德综合征”的患者中。 - Suppr

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超能文献

Steroid sulphatase deficiency is present in patients with the syndrome 'ichthyosis and male hypogonadism' and with 'Rud syndrome'.

作者信息

Andria G, Ballabio A, Parenti G, Di Maio S, Piccirillo A

出版信息

J Inherit Metab Dis. 1984;7 Suppl 2:159-60. doi: 10.1007/978-94-009-5612-4_54.

DOI:10.1007/978-94-009-5612-4_54

PMID:6434878

Abstract

摘要

相似文献

Steroid sulphatase deficiency is present in patients with the syndrome 'ichthyosis and male hypogonadism' and with 'Rud syndrome'.类固醇硫酸酯酶缺乏症存在于患有“鱼鳞病和男性性腺功能减退综合征”以及“鲁德综合征”的患者中。

J Inherit Metab Dis. 1984;7 Suppl 2:159-60. doi: 10.1007/978-94-009-5612-4_54.

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.

X-linked ichthyosis due to steroid sulfatase deficiency associated with hypogonadism and anosmia.由于类固醇硫酸酯酶缺乏导致的与性腺功能减退和嗅觉缺失相关的X连锁鱼鳞病。

Ann Neurol. 1987 Jul;22(1):98-9. doi: 10.1002/ana.410220130.

Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome.“经典型”X连锁鱼鳞病及与卡尔曼综合征相关的X连锁鱼鳞病中类固醇硫酸酯酶基因的缺失。

Hum Genet. 1987 Dec;77(4):338-41. doi: 10.1007/BF00291422.

More on X-linked ichthyosis, steroid sulfatase deficiency, and hypogonadism and anosmia.更多关于X连锁鱼鳞病、类固醇硫酸酯酶缺乏症以及性腺功能减退和嗅觉缺失的内容。

Ann Neurol. 1988 Jan;23(1):103. doi: 10.1002/ana.410230124.

Steroid sulphatase deficiency and hypogonadism.类固醇硫酸酯酶缺乏症与性腺功能减退。

Eur J Pediatr. 1984 Sep;142(4):304-5. doi: 10.1007/BF00540260.

A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C.一种新的综合征，表现为嗅觉丧失、鱼鳞病、性腺功能减退以及伴有类固醇硫酸酯酶和芳基硫酸酯酶C缺乏的各种神经学表现。

Ann Neurol. 1986 Feb;19(2):174-81. doi: 10.1002/ana.410190211.

Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature.鱼鳞病、性腺功能减退、智力发育迟缓及癫痫综合征的遗传异质性。对两名Rud综合征患者的临床及生化研究并文献复习。

Eur J Pediatr. 1983 Oct;141(1):8-13. doi: 10.1007/BF00445661.

Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism.类固醇硫酸酯酶缺乏症的临床谱：X连锁隐性鱼鳞病、出生并发症和隐睾症。

Eur J Pediatr. 1983 Mar;140(1):19-21. doi: 10.1007/BF00661898.

Genetic complementation of steroid sulphatase after somatic cell hybridization of X-linked ichthyosis and multiple sulphatase deficiency.X连锁鱼鳞病与多种硫酸酯酶缺乏症体细胞杂交后类固醇硫酸酯酶的基因互补

Hum Genet. 1985;70(4):315-7. doi: 10.1007/BF00295367.

引用本文的文献

The role of the prokineticin 2 pathway in human reproduction: evidence from the study of human and murine gene mutations.促动力素 2 途径在人类生殖中的作用：来自人类和鼠基因突变研究的证据。

Endocr Rev. 2011 Apr;32(2):225-46. doi: 10.1210/er.2010-0007. Epub 2010 Oct 29.

Steroid sulphatase deficiency and hypogonadism.类固醇硫酸酯酶缺乏症与性腺功能减退。

Eur J Pediatr. 1984 Sep;142(4):304-5. doi: 10.1007/BF00540260.

Hum Genet. 1987 Dec;77(4):338-41. doi: 10.1007/BF00291422.

Studies on cross-reacting material to steroid sulphatase in fibroblasts from patients affected by different types of steroid sulphatase deficiency.不同类型类固醇硫酸酯酶缺乏症患者成纤维细胞中类固醇硫酸酯酶交叉反应物质的研究。

J Inherit Metab Dis. 1987;10(3):224-8. doi: 10.1007/BF01800065.

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

Contiguous gene syndromes due to deletions in the distal short arm of the human X chromosome.由于人类X染色体短臂远端缺失导致的相邻基因综合征。

Proc Natl Acad Sci U S A. 1989 Dec;86(24):10001-5. doi: 10.1073/pnas.86.24.10001.

An Xp22 microdeletion associated with ocular albinism and ichthyosis: approximation of breakpoints and estimation of deletion size by using cloned DNA probes and flow cytometry.一种与眼白化病和鱼鳞病相关的Xp22微缺失：利用克隆DNA探针和流式细胞术确定断点位置及估计缺失大小

Am J Hum Genet. 1989 Nov;45(5):706-20.

Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.X连锁卡尔曼综合征（促性腺激素缺乏性性腺功能减退症伴嗅觉缺失）定位于Xp22.3：与高变重复序列CRI-S232紧密连锁。

Am J Hum Genet. 1990 Oct;47(4):664-9.

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