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Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report
Mucopolysaccharidosis I (MPS I) is a rare inherited disorder that belongs to a group of clinically progressive disorders and is caused by the deficiency of the lysosomal enzyme, α(1)-iduronidase. MPS I has been recently classified into a severe (Hurler syndrome) and an attenuated type (Hurler-Scheie...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Medknow Publications Pvt Ltd
2011
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3220181/ https://www.ncbi.nlm.nih.gov/pubmed/22114460 http://dx.doi.org/10.4103/0976-237X.79287 |
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author | Tatapudi, Ramesh Gunashekhar, M. Raju, P. Suryanarayana |
author_facet | Tatapudi, Ramesh Gunashekhar, M. Raju, P. Suryanarayana |
author_sort | Tatapudi, Ramesh |
collection | PubMed |
description | Mucopolysaccharidosis I (MPS I) is a rare inherited disorder that belongs to a group of clinically progressive disorders and is caused by the deficiency of the lysosomal enzyme, α(1)-iduronidase. MPS I has been recently classified into a severe (Hurler syndrome) and an attenuated type (Hurler-Scheie and Scheie syndromes). The purpose of this article was to describe a rare case of MPS type I, attenuated type (Hurler-Scheie) affecting a 15-year-old Indian child. |
format | Online Article Text |
id | pubmed-3220181 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2011 |
publisher | Medknow Publications Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-32201812011-11-23 Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report Tatapudi, Ramesh Gunashekhar, M. Raju, P. Suryanarayana Contemp Clin Dent Case Report Mucopolysaccharidosis I (MPS I) is a rare inherited disorder that belongs to a group of clinically progressive disorders and is caused by the deficiency of the lysosomal enzyme, α(1)-iduronidase. MPS I has been recently classified into a severe (Hurler syndrome) and an attenuated type (Hurler-Scheie and Scheie syndromes). The purpose of this article was to describe a rare case of MPS type I, attenuated type (Hurler-Scheie) affecting a 15-year-old Indian child. Medknow Publications Pvt Ltd 2011 /pmc/articles/PMC3220181/ /pubmed/22114460 http://dx.doi.org/10.4103/0976-237X.79287 Text en Copyright: © Contemporary Clinical Dentistry http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Case Report Tatapudi, Ramesh Gunashekhar, M. Raju, P. Suryanarayana Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report |
title | Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report |
title_full | Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report |
title_fullStr | Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report |
title_full_unstemmed | Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report |
title_short | Mucopolysaccharidosis type I Hurler-Scheie syndrome: A rare case report |
title_sort | mucopolysaccharidosis type i hurler-scheie syndrome: a rare case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3220181/ https://www.ncbi.nlm.nih.gov/pubmed/22114460 http://dx.doi.org/10.4103/0976-237X.79287 |
work_keys_str_mv | AT tatapudiramesh mucopolysaccharidosistypeihurlerscheiesyndromeararecasereport AT gunashekharm mucopolysaccharidosistypeihurlerscheiesyndromeararecasereport AT rajupsuryanarayana mucopolysaccharidosistypeihurlerscheiesyndromeararecasereport |