Clinical and biochemical characteristics of prolidase deficiency in siblings
Two brothers with recurrent skin ulcers of the lower limbs, subnormal intelligence, developmental abnormalities, and poliosis were found to excrete large quantities of several imidodipeptides in their urine. Glycylproline was the most prominent imidodipeptide excreted and was also detected in their...
محفوظ في:
| المؤلف الرئيسي: | |
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| مؤلفون آخرون: | , , , , |
| التنسيق: | article |
| منشور في: |
1984
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| الوصول للمادة أونلاين: | http://hdl.handle.net/10725/4827 http://dx.doi.org/10.1002/ajmg.1320190319 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320190319/abstract |
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إضافة وسم
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| _version_ | 1864513464610848769 |
|---|---|
| author | Deeb, Mary |
| author2 | Freij, Bishara J. Levy, Harvey L. Dudin, Gertrud Mutasim, Diya' Der Kaloustian, Vazken M. |
| author2_role | author author author author author |
| author_facet | Deeb, Mary Freij, Bishara J. Levy, Harvey L. Dudin, Gertrud Mutasim, Diya' Der Kaloustian, Vazken M. |
| author_role | author |
| dc.creator.none.fl_str_mv | Deeb, Mary Freij, Bishara J. Levy, Harvey L. Dudin, Gertrud Mutasim, Diya' Der Kaloustian, Vazken M. |
| dc.date.none.fl_str_mv | 1984 2016-11-18T12:27:14Z 2016-11-18T12:27:14Z 2016-11-18 |
| dc.identifier.none.fl_str_mv | 0148-7299 http://hdl.handle.net/10725/4827 http://dx.doi.org/10.1002/ajmg.1320190319 Freij, B. J., Levy, H. L., Dudin, G., Mutasim, D., Deeb, M., & Der Kaloustian, V. M. (1984). Clinical and biochemical characteristics of prolidase deficiency in siblings. American journal of medical genetics, 19(3), 561-571. http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320190319/abstract |
| dc.language.none.fl_str_mv | en |
| dc.relation.none.fl_str_mv | American Journal of Medical Genetics |
| dc.rights.*.fl_str_mv | info:eu-repo/semantics/openAccess |
| dc.title.none.fl_str_mv | Clinical and biochemical characteristics of prolidase deficiency in siblings |
| dc.type.none.fl_str_mv | Article info:eu-repo/semantics/publishedVersion info:eu-repo/semantics/article |
| description | Two brothers with recurrent skin ulcers of the lower limbs, subnormal intelligence, developmental abnormalities, and poliosis were found to excrete large quantities of several imidodipeptides in their urine. Glycylproline was the most prominent imidodipeptide excreted and was also detected in their blood. Prolidase activity was markedly deficient in red blood cells from both patients (4.1% and 3.7% of control mean) and skin fibroblasts from the one brother so examined (3.7% of control mean). A total of 20 patients with prolidase deficiency, including the two in this report, have been described in the literature. Their manifestations and various attempts at treatment are reviewed. |
| eu_rights_str_mv | openAccess |
| format | article |
| id | LAURepo_dc5ec371ef42d9806b3e6dd0195100bc |
| identifier_str_mv | 0148-7299 Freij, B. J., Levy, H. L., Dudin, G., Mutasim, D., Deeb, M., & Der Kaloustian, V. M. (1984). Clinical and biochemical characteristics of prolidase deficiency in siblings. American journal of medical genetics, 19(3), 561-571. |
| language_invalid_str_mv | en |
| network_acronym_str | LAURepo |
| network_name_str | Lebanese American University repository |
| oai_identifier_str | oai:laur.lau.edu.lb:10725/4827 |
| publishDate | 1984 |
| repository.mail.fl_str_mv | |
| repository.name.fl_str_mv | |
| repository_id_str | |
| spelling | Clinical and biochemical characteristics of prolidase deficiency in siblingsDeeb, MaryFreij, Bishara J.Levy, Harvey L.Dudin, GertrudMutasim, Diya'Der Kaloustian, Vazken M.Two brothers with recurrent skin ulcers of the lower limbs, subnormal intelligence, developmental abnormalities, and poliosis were found to excrete large quantities of several imidodipeptides in their urine. Glycylproline was the most prominent imidodipeptide excreted and was also detected in their blood. Prolidase activity was markedly deficient in red blood cells from both patients (4.1% and 3.7% of control mean) and skin fibroblasts from the one brother so examined (3.7% of control mean). A total of 20 patients with prolidase deficiency, including the two in this report, have been described in the literature. Their manifestations and various attempts at treatment are reviewed.PublishedN/A2016-11-18T12:27:14Z2016-11-18T12:27:14Z19842016-11-18Articleinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article0148-7299http://hdl.handle.net/10725/4827http://dx.doi.org/10.1002/ajmg.1320190319Freij, B. J., Levy, H. L., Dudin, G., Mutasim, D., Deeb, M., & Der Kaloustian, V. M. (1984). Clinical and biochemical characteristics of prolidase deficiency in siblings. American journal of medical genetics, 19(3), 561-571.http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.phphttp://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320190319/abstractenAmerican Journal of Medical Geneticsinfo:eu-repo/semantics/openAccessoai:laur.lau.edu.lb:10725/48272021-03-19T10:00:51Z |
| spellingShingle | Clinical and biochemical characteristics of prolidase deficiency in siblings Deeb, Mary |
| status_str | publishedVersion |
| title | Clinical and biochemical characteristics of prolidase deficiency in siblings |
| title_full | Clinical and biochemical characteristics of prolidase deficiency in siblings |
| title_fullStr | Clinical and biochemical characteristics of prolidase deficiency in siblings |
| title_full_unstemmed | Clinical and biochemical characteristics of prolidase deficiency in siblings |
| title_short | Clinical and biochemical characteristics of prolidase deficiency in siblings |
| title_sort | Clinical and biochemical characteristics of prolidase deficiency in siblings |
| url | http://hdl.handle.net/10725/4827 http://dx.doi.org/10.1002/ajmg.1320190319 http://libraries.lau.edu.lb/research/laur/terms-of-use/articles.php http://onlinelibrary.wiley.com/doi/10.1002/ajmg.1320190319/abstract |