دورية أكاديمية
Sex-linked ichthyosis and placental sulphatase C deficiency.
| العنوان: | Sex-linked ichthyosis and placental sulphatase C deficiency. |
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| المؤلفون: | de Groot WP, Jobsis AC, Marinkovic-Ilsen A, Koppe JG, de Bruijn HW |
| المصدر: | The British journal of dermatology [Br J Dermatol] 1980 Jul; Vol. 103 (1), pp. 73-9. |
| نوع المنشور: | Case Reports; Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Oxford University Press Country of Publication: England NLM ID: 0004041 Publication Model: Print Cited Medium: Print ISSN: 0007-0963 (Print) Linking ISSN: 00070963 NLM ISO Abbreviation: Br J Dermatol Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2023- : Oxford : Oxford University Press Original Publication: Oxford [etc.] Published for the British Association of Dermatologists by Blackwell Scientific Publications [etc.] |
| مواضيع طبية MeSH: | Ichthyosis/*genetics , Placenta/*enzymology , Sulfatases/*deficiency, Adult ; Arylsulfatases/deficiency ; Female ; Humans ; Ichthyosis/enzymology ; Infant, Newborn ; Male ; Pregnancy ; Sex Chromosome Aberrations ; Skin/enzymology ; X Chromosome |
| مستخلص: | Ichthyosis was diagnosed in six boys born from pregnancies in which placental steroid sulphatase deficiency was present. In four cases the diagnosis of sex-linked ichthyosis was certain, in the other two the ichthyosis was probably of the sex-linked type. No arylsulphatase C activity could be demonstrated histochemically either in the epidermis of these boys, or in the epidermis of adults with sex-linked ichthyosis, whilst it was present in normal controls. In cultured skin fibroblasts steroid-sulphatase activity was extremely low. We conclude that deficiency of steroid sulphatase C or arylsulphatase C or a third functionally linked enzyme is an important factor in the pathogenesis of sex-linked ichthyosis. |
| المشرفين على المادة: | EC 3.1.6.- (Sulfatases) EC 3.1.6.1 (Arylsulfatases) |
| تواريخ الأحداث: | Date Created: 19800701 Date Completed: 19810126 Latest Revision: 20190704 |
| رمز التحديث: | 20240829 |
| DOI: | 10.1111/j.1365-2133.1980.tb15840.x |
| PMID: | 7426407 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 0007-0963 |
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| DOI: | 10.1111/j.1365-2133.1980.tb15840.x |