GLYCOSYLATION DISORDER SYNDROME TYPE 1b: DIAGNOSTICS AND TREATMENT
The article highlights the medical case of a rare hereditary disease — glycosylation disorder syndrome type 1b, unique for our country. This syndrome is referred to the heterogeneous group of the congenital diseases characterized by the disorder of glycoprotein synthesis as a result of the defects N...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | Russian |
| Published: |
Union of pediatricians of Russia
2008-09-01
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| Series: | Педиатрическая фармакология |
| Online Access: | https://www.pedpharma.ru/jour/article/view/765 |
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| _version_ | 1850046687711592448 |
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| author | Yu.S. Akoev A.V. Migali N.V. Zhurkova O.B. Kondakova E.A. Roslavtseva A.R. Pinaeva V.A. Skvortsova I.I. Migali |
| author_facet | Yu.S. Akoev A.V. Migali N.V. Zhurkova O.B. Kondakova E.A. Roslavtseva A.R. Pinaeva V.A. Skvortsova I.I. Migali |
| author_sort | Yu.S. Akoev |
| collection | DOAJ |
| description | The article highlights the medical case of a rare hereditary disease — glycosylation disorder syndrome type 1b, unique for our country. This syndrome is referred to the heterogeneous group of the congenital diseases characterized by the disorder of glycoprotein synthesis as a result of the defects N or O glycosylation. Manifestations of the disease are protein losing enteropathy and severe developmental delay, hypoglycemia, co agulopathy (thrombosis), liver injury. glycosylation disorder syndrome type 1b differs from other types of this group absence of the neurologic semiology and efficiency of therapy by mannose.Key words: glycoproteins, glycosylation disorders, manifestations, mannose, children. |
| format | Article |
| id | doaj-art-72f8c490202f4fd7be1968f95b008fa3 |
| institution | DOAJ |
| issn | 1727-5776 2500-3089 |
| language | Russian |
| publishDate | 2008-09-01 |
| publisher | Union of pediatricians of Russia |
| record_format | Article |
| series | Педиатрическая фармакология |
| spelling | doaj-art-72f8c490202f4fd7be1968f95b008fa32025-08-20T02:54:23ZrusUnion of pediatricians of RussiaПедиатрическая фармакология1727-57762500-30892008-09-01553133760GLYCOSYLATION DISORDER SYNDROME TYPE 1b: DIAGNOSTICS AND TREATMENTYu.S. Akoev0A.V. Migali1N.V. Zhurkova2O.B. Kondakova3E.A. Roslavtseva4A.R. Pinaeva5V.A. Skvortsova6I.I. Migali7Scientific Center of Children's Health, Russian Academy of Medical Sciences, MoscowScientific Center of Children's Health, Russian Academy of Medical Sciences, MoscowScientific Center of Children's Health, Russian Academy of Medical Sciences, MoscowScientific Center of Children's Health, Russian Academy of Medical Sciences, MoscowScientific Center of Children's Health, Russian Academy of Medical Sciences, MoscowScientific Center of Children's Health, Russian Academy of Medical Sciences, MoscowScientific Center of Children's Health, Russian Academy of Medical Sciences, MoscowScientific Center of Children's Health, Russian Academy of Medical Sciences, MoscowThe article highlights the medical case of a rare hereditary disease — glycosylation disorder syndrome type 1b, unique for our country. This syndrome is referred to the heterogeneous group of the congenital diseases characterized by the disorder of glycoprotein synthesis as a result of the defects N or O glycosylation. Manifestations of the disease are protein losing enteropathy and severe developmental delay, hypoglycemia, co agulopathy (thrombosis), liver injury. glycosylation disorder syndrome type 1b differs from other types of this group absence of the neurologic semiology and efficiency of therapy by mannose.Key words: glycoproteins, glycosylation disorders, manifestations, mannose, children.https://www.pedpharma.ru/jour/article/view/765 |
| spellingShingle | Yu.S. Akoev A.V. Migali N.V. Zhurkova O.B. Kondakova E.A. Roslavtseva A.R. Pinaeva V.A. Skvortsova I.I. Migali GLYCOSYLATION DISORDER SYNDROME TYPE 1b: DIAGNOSTICS AND TREATMENT Педиатрическая фармакология |
| title | GLYCOSYLATION DISORDER SYNDROME TYPE 1b: DIAGNOSTICS AND TREATMENT |
| title_full | GLYCOSYLATION DISORDER SYNDROME TYPE 1b: DIAGNOSTICS AND TREATMENT |
| title_fullStr | GLYCOSYLATION DISORDER SYNDROME TYPE 1b: DIAGNOSTICS AND TREATMENT |
| title_full_unstemmed | GLYCOSYLATION DISORDER SYNDROME TYPE 1b: DIAGNOSTICS AND TREATMENT |
| title_short | GLYCOSYLATION DISORDER SYNDROME TYPE 1b: DIAGNOSTICS AND TREATMENT |
| title_sort | glycosylation disorder syndrome type 1b diagnostics and treatment |
| url | https://www.pedpharma.ru/jour/article/view/765 |
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