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State of the art in muscle glycogenoses
The recognition of a series of metabolic/enzymatic dysfunctions in glycogenoses has allowed new therapeutic advances for their treatment due to the development of recombinant enzyme. A recent advance appears enzymatic replacement therapy (ERT) in glycogenosis type II in both infantile, juvenile and...
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Formato: | Texto |
Lenguaje: | English |
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Pacini Editore SpA
2010
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3040590/ https://www.ncbi.nlm.nih.gov/pubmed/21314016 |
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author | Angelini, C. |
author_facet | Angelini, C. |
author_sort | Angelini, C. |
collection | PubMed |
description | The recognition of a series of metabolic/enzymatic dysfunctions in glycogenoses has allowed new therapeutic advances for their treatment due to the development of recombinant enzyme. A recent advance appears enzymatic replacement therapy (ERT) in glycogenosis type II in both infantile, juvenile and adult form. Targeted manipulation of diet has been tried both in glycogenosis type II (Pompe disease) and type V (Mc Ardle disease). |
format | Text |
id | pubmed-3040590 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2010 |
publisher | Pacini Editore SpA |
record_format | MEDLINE/PubMed |
spelling | pubmed-30405902011-08-01 State of the art in muscle glycogenoses Angelini, C. Acta Myol Original Articles The recognition of a series of metabolic/enzymatic dysfunctions in glycogenoses has allowed new therapeutic advances for their treatment due to the development of recombinant enzyme. A recent advance appears enzymatic replacement therapy (ERT) in glycogenosis type II in both infantile, juvenile and adult form. Targeted manipulation of diet has been tried both in glycogenosis type II (Pompe disease) and type V (Mc Ardle disease). Pacini Editore SpA 2010-10 /pmc/articles/PMC3040590/ /pubmed/21314016 Text en Gaetano Conte Academy, Naples, Italy http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives License, which permits for noncommercial use, distribution, and reproduction in any digital medium, provided the original work is properly cited and is not altered in any way. For details, please refer to http://creativecommons.org/licenses/by-nc-nd/3.0/ |
spellingShingle | Original Articles Angelini, C. State of the art in muscle glycogenoses |
title |
State of the art in muscle glycogenoses |
title_full |
State of the art in muscle glycogenoses |
title_fullStr |
State of the art in muscle glycogenoses |
title_full_unstemmed |
State of the art in muscle glycogenoses |
title_short |
State of the art in muscle glycogenoses |
title_sort | state of the art in muscle glycogenoses |
topic | Original Articles |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3040590/ https://www.ncbi.nlm.nih.gov/pubmed/21314016 |
work_keys_str_mv | AT angelinic stateoftheartinmuscleglycogenoses |