X连锁鱼鳞病培养皮肤成纤维细胞中芳基硫酸酯酶C的缺乏。 - Suppr

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超能文献

Deficiency of arylsulfatase C in cultured skin fibroblasts of X-linked ichthyosis.

作者信息

Meyer J C, Weiss H, Grundmann H P, Würsch T G, Schnyder U W

出版信息

Hum Genet. 1979;53(1):115-6. doi: 10.1007/BF00289462.

DOI:10.1007/BF00289462

PMID:575348

Abstract

摘要

相似文献

Deficiency of arylsulfatase C in cultured skin fibroblasts of X-linked ichthyosis.X连锁鱼鳞病培养皮肤成纤维细胞中芳基硫酸酯酶C的缺乏。

Hum Genet. 1979;53(1):115-6. doi: 10.1007/BF00289462.

[Microsomal sulfatase deficiency in X chromosome-linked ichthyosis].[X染色体连锁鱼鳞病中的微粒体硫酸酯酶缺乏症]

Hautarzt. 1982 Feb;33(2):82-8.

X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations.X连锁鱼鳞病和X连锁胎盘硫酸酯酶缺乏症：一种疾病实体。组织化学观察。

Am J Pathol. 1980 May;99(2):279-89.

[Arylsulfatase C deficiency in leukocytes in patients and carrier of X-chromosome recessive ichthyosis].[X染色体隐性鱼鳞病患者及携带者白细胞中芳基硫酸酯酶C缺乏症]

Dermatol Monatsschr. 1986;172(10):624-6.

Sex-linked ichthyosis and placental sulphatase C deficiency.性连锁鱼鳞病与胎盘硫酸酯酶C缺乏症

Br J Dermatol. 1980 Jul;103(1):73-9. doi: 10.1111/j.1365-2133.1980.tb15840.x.

[The enzyme arylsulfatase C and steroid sulfatase as biochemical markers and pathogenetic factors in X-chromosome recessively inherited ichthyosis].[芳基硫酸酯酶C和类固醇硫酸酯酶作为X染色体隐性遗传性鱼鳞病的生化标志物和致病因素]

Dermatol Monatsschr. 1983;169(10):621-4.

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.

X-linked recessive ichthyosis. Enzymatic diagnosis of affected males and female carriers.X连锁隐性鱼鳞病。患病男性和女性携带者的酶学诊断。

Enzyme. 1989;41(4):227-34.

Enzymatic basis of typical X-linked ichthyosis.

Lancet. 1978 Nov 18;2(8099):1097. doi: 10.1016/s0140-6736(78)91831-7.

Placental steroid deficiency: association with arylsulfatase A deficiency.胎盘类固醇缺乏：与芳基硫酸酯酶A缺乏的关联。

Am J Hum Genet. 1982 May;34(3):434-43.

引用本文的文献

Inherited ichthyoses/generalized Mendelian disorders of cornification.遗传性鱼鳞病/广义性孟德尔角化异常。

Eur J Hum Genet. 2013 Feb;21(2):123-33. doi: 10.1038/ejhg.2012.121. Epub 2012 Jun 27.

Cellular localization of neuraminidases in cultured human fibroblasts.神经氨酸酶在培养的人成纤维细胞中的细胞定位

Biochem J. 1981 Sep 15;198(3):505-8. doi: 10.1042/bj1980505.

Elevated levels of arylsulfatase C activity in cultured skin fibroblasts of patients with autosomal dominant ichthyosis vulgaris.常染色体显性寻常型鱼鳞病患者培养的皮肤成纤维细胞中芳基硫酸酯酶C活性水平升高。

Hum Genet. 1982;60(1):69-70. doi: 10.1007/BF00281267.

Arylsulfatase C activities in skin preparations of X-linked and autosomal dominant ichthyosis.X连锁和常染色体显性鱼鳞病皮肤制剂中的芳基硫酸酯酶C活性。

Arch Dermatol Res. 1980;269(2):213-5. doi: 10.1007/BF00406544.

Review: genetics of steroid sulphatase deficiency and X-linked ichthyosis.综述：类固醇硫酸酯酶缺乏症与X连锁鱼鳞病的遗传学

J Inherit Metab Dis. 1982;5(3):153-63. doi: 10.1007/BF01800171.

Review: the mammalian sulphatases and placental sulphatase deficiency in man.综述：哺乳动物硫酸酯酶与人类胎盘硫酸酯酶缺乏症

J Inherit Metab Dis. 1982;5(3):145-52. doi: 10.1007/BF01800170.

Fluorometric determination of DNA in epidermis and cultured fibroblasts, using 4'-6-diamidino-2-phenylindole (DAPI).使用4′-6-二脒基-2-苯基吲哚（DAPI）对表皮和培养的成纤维细胞中的DNA进行荧光测定。

Arch Dermatol Res. 1984;276(1):52-6. doi: 10.1007/BF00412563.

A comparative study on steroid sulfatase and arylsulfatase C in fibroblast clones from 45,X/47,XXX and 69,XXY.对来自45,X/47,XXX和69,XXY的成纤维细胞克隆中类固醇硫酸酯酶和芳基硫酸酯酶C的比较研究。

Hum Genet. 1984;66(4):367-9. doi: 10.1007/BF00287644.

Biochemical investigation to the reliability of the histochemical demonstration of microsomal arylsulphatase activity in cryostat sections.对低温恒温器切片中微粒体芳基硫酸酯酶活性组织化学显示可靠性的生化研究。

Histochemistry. 1981;73(2):161-4. doi: 10.1007/BF00493015.

Cholesterol sulphate in the microsomal sulphatase deficient placenta.微粒体硫酸酯酶缺乏的胎盘中的胆固醇硫酸酯

J Inherit Metab Dis. 1984;7(2):72-6. doi: 10.1007/BF01805808.

本文引用的文献

Measurement of the arylsulphatase of Patella vulgata with 4-methylumbelliferone sulphate.用 4-甲基伞形酮硫酸盐测定普通滨螺的芳基硫酸酯酶。

Biochem J. 1967 Mar;102(3):905-9. doi: 10.1042/bj1020905.

Assay of a microsomal marker enzyme: rat liver arylsulphatase C.微粒体标记酶的测定：大鼠肝脏芳基硫酸酯酶C

Biochem J. 1968 Sep;109(3):40P. doi: 10.1042/bj1090040pa.

The determination of arylsulfatases in biological fluids.

Clin Chim Acta. 1970 Sep;29(3):481-91. doi: 10.1016/0009-8981(70)90019-7.

The specific assay of arylsulphatase C, a rat liver microsomal marker enzyme.大鼠肝脏微粒体标记酶芳基硫酸酯酶C的特异性测定

Biochem J. 1972 Jun;128(2):331-6. doi: 10.1042/bj1280331.

Low urinary oestriol excretion during pregnancy associated with placental sulphatase deficiency or congenital adrenal hypoplasia.孕期尿雌三醇排泄量低与胎盘硫酸酯酶缺乏或先天性肾上腺发育不全有关。

J Obstet Gynaecol Br Commonw. 1972 Sep;79(9):810-5. doi: 10.1111/j.1471-0528.1972.tb12926.x.

A study of pregnancy with low estrogen production due to placental sulfatase deficiency.一项关于因胎盘硫酸酯酶缺乏导致雌激素分泌不足的妊娠研究。

J Clin Endocrinol Metab. 1973 Jan;36(1):1-9. doi: 10.1210/jcem-36-1-1.

Steroid sulfatase deficiency.

Pediatr Res. 1977 Aug;11(8):894-7. doi: 10.1203/00006450-197708000-00008.

X-linked icthyosis. A sulphatase deficiency.X连锁鱼鳞病。一种硫酸酯酶缺乏症。

Arch Dis Child. 1978 Oct;53(10):803-6. doi: 10.1136/adc.53.10.803.

Determination of arylsulfatase C in hair follicles.毛囊中芳基硫酸酯酶C的测定。

Arch Dermatol Res. 1979 Aug;266(1):95-7. doi: 10.1007/BF00412868.

Clinical and biochemical investigations on patients with partial deficiency of placental steroid sulfatase.

Hum Genet. 1979 Jan 25;46(2):199-207. doi: 10.1007/BF00291922.

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