Orthopedic Pathology in Children with Mucopolysaccharidosis Type I
Mucopolysaccharidosis type I is inherited in an autosomal recessive manner and results from the defective activity of the enzyme alpha-L-iduronidase, which leads to the accumulation of glycosaminoglycans (mainly heparan and dermatan sulfate) in the lysosomes and further multiple organ dysfunction. T...
| Main Authors: | , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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"Paediatrician" Publishers LLC
2016-12-01
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| Series: | Вопросы современной педиатрии |
| Subjects: | |
| Online Access: | https://vsp.spr-journal.ru/jour/article/view/1693 |
| _version_ | 1797694985448980480 |
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| author | Nato D. Vashakmadze Leyla S. Namazova-Baranova Anait K. Gevorkian Ludmila M. Kuzenkova Tatiana V. Podkletnova Marina A. Babaykina Anatoly B. Anikin Galina B. Kuznetsova Liliya A. Osipova Konstantin V. Jerdev |
| author_facet | Nato D. Vashakmadze Leyla S. Namazova-Baranova Anait K. Gevorkian Ludmila M. Kuzenkova Tatiana V. Podkletnova Marina A. Babaykina Anatoly B. Anikin Galina B. Kuznetsova Liliya A. Osipova Konstantin V. Jerdev |
| author_sort | Nato D. Vashakmadze |
| collection | DOAJ |
| description | Mucopolysaccharidosis type I is inherited in an autosomal recessive manner and results from the defective activity of the enzyme alpha-L-iduronidase, which leads to the accumulation of glycosaminoglycans (mainly heparan and dermatan sulfate) in the lysosomes and further multiple organ dysfunction. This severe genetic progressive disease can be detected at an early age by skeletal deformities and phenotypic data. Early enzyme replacement therapy and/or bone marrow transplantation can slow down irreversible damages to various organs and systems or reduce their severity and improve the quality of life for a child. |
| first_indexed | 2024-03-12T03:05:45Z |
| format | Article |
| id | doaj.art-125e57dd308e424d903a25f23de8b293 |
| institution | Directory Open Access Journal |
| issn | 1682-5527 1682-5535 |
| language | English |
| last_indexed | 2024-03-12T03:05:45Z |
| publishDate | 2016-12-01 |
| publisher | "Paediatrician" Publishers LLC |
| record_format | Article |
| series | Вопросы современной педиатрии |
| spelling | doaj.art-125e57dd308e424d903a25f23de8b2932023-09-03T14:32:55Zeng"Paediatrician" Publishers LLCВопросы современной педиатрии1682-55271682-55352016-12-0115656256710.15690/vsp.v15i6.16521642Orthopedic Pathology in Children with Mucopolysaccharidosis Type INato D. Vashakmadze0Leyla S. Namazova-Baranova1Anait K. Gevorkian2Ludmila M. Kuzenkova3Tatiana V. Podkletnova4Marina A. Babaykina5Anatoly B. Anikin6Galina B. Kuznetsova7Liliya A. Osipova8Konstantin V. Jerdev9Научный центр здоровья детей Российский национальный исследовательский медицинский университет им. Н.И. ПироговаНаучный центр здоровья детей Российский национальный исследовательский медицинский университет им. Н.И. Пирогова Первый Московский государственный медицинский университет им. И.М. СеченоваНаучный центр здоровья детей Российский национальный исследовательский медицинский университет им. Н.И. ПироговаНаучный центр здоровья детей Российский национальный исследовательский медицинский университет им. Н.И. ПироговаНаучный центр здоровья детейНаучный центр здоровья детейНаучный центр здоровья детейНаучный центр здоровья детейНаучный центр здоровья детейНаучный центр здоровья детейMucopolysaccharidosis type I is inherited in an autosomal recessive manner and results from the defective activity of the enzyme alpha-L-iduronidase, which leads to the accumulation of glycosaminoglycans (mainly heparan and dermatan sulfate) in the lysosomes and further multiple organ dysfunction. This severe genetic progressive disease can be detected at an early age by skeletal deformities and phenotypic data. Early enzyme replacement therapy and/or bone marrow transplantation can slow down irreversible damages to various organs and systems or reduce their severity and improve the quality of life for a child.https://vsp.spr-journal.ru/jour/article/view/1693мукополисахаридозсиндром гурлерсиндром шейесиндром гурлер–шейедизостозсуставной синдромферментозаместительная терапия |
| spellingShingle | Nato D. Vashakmadze Leyla S. Namazova-Baranova Anait K. Gevorkian Ludmila M. Kuzenkova Tatiana V. Podkletnova Marina A. Babaykina Anatoly B. Anikin Galina B. Kuznetsova Liliya A. Osipova Konstantin V. Jerdev Orthopedic Pathology in Children with Mucopolysaccharidosis Type I Вопросы современной педиатрии мукополисахаридоз синдром гурлер синдром шейе синдром гурлер–шейе дизостоз суставной синдром ферментозаместительная терапия |
| title | Orthopedic Pathology in Children with Mucopolysaccharidosis Type I |
| title_full | Orthopedic Pathology in Children with Mucopolysaccharidosis Type I |
| title_fullStr | Orthopedic Pathology in Children with Mucopolysaccharidosis Type I |
| title_full_unstemmed | Orthopedic Pathology in Children with Mucopolysaccharidosis Type I |
| title_short | Orthopedic Pathology in Children with Mucopolysaccharidosis Type I |
| title_sort | orthopedic pathology in children with mucopolysaccharidosis type i |
| topic | мукополисахаридоз синдром гурлер синдром шейе синдром гурлер–шейе дизостоз суставной синдром ферментозаместительная терапия |
| url | https://vsp.spr-journal.ru/jour/article/view/1693 |
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