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Choice of diagnostic method for liver‐type glycogen storage disease
Liver biopsy is a highly invasive in nature, and measurement of enzyme activity in blood cells and the Fernandez test are less certain for the diagnosis of glycogen storage disease (GSD). Therefore, genetic testing, which can also identify typing, should be prioritized for the diagnosis of GSD.
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9576969/ https://www.ncbi.nlm.nih.gov/pubmed/36267830 http://dx.doi.org/10.1002/ccr3.6480 |
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author | Kakiuchi, Toshihiko Zhang, Yumeng |
author_facet | Kakiuchi, Toshihiko Zhang, Yumeng |
author_sort | Kakiuchi, Toshihiko |
collection | PubMed |
description | Liver biopsy is a highly invasive in nature, and measurement of enzyme activity in blood cells and the Fernandez test are less certain for the diagnosis of glycogen storage disease (GSD). Therefore, genetic testing, which can also identify typing, should be prioritized for the diagnosis of GSD. |
format | Online Article Text |
id | pubmed-9576969 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | John Wiley and Sons Inc. |
record_format | MEDLINE/PubMed |
spelling | pubmed-95769692022-10-19 Choice of diagnostic method for liver‐type glycogen storage disease Kakiuchi, Toshihiko Zhang, Yumeng Clin Case Rep Case Images Liver biopsy is a highly invasive in nature, and measurement of enzyme activity in blood cells and the Fernandez test are less certain for the diagnosis of glycogen storage disease (GSD). Therefore, genetic testing, which can also identify typing, should be prioritized for the diagnosis of GSD. John Wiley and Sons Inc. 2022-10-17 /pmc/articles/PMC9576969/ /pubmed/36267830 http://dx.doi.org/10.1002/ccr3.6480 Text en © 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. |
spellingShingle | Case Images Kakiuchi, Toshihiko Zhang, Yumeng Choice of diagnostic method for liver‐type glycogen storage disease |
title | Choice of diagnostic method for liver‐type glycogen storage disease |
title_full | Choice of diagnostic method for liver‐type glycogen storage disease |
title_fullStr | Choice of diagnostic method for liver‐type glycogen storage disease |
title_full_unstemmed | Choice of diagnostic method for liver‐type glycogen storage disease |
title_short | Choice of diagnostic method for liver‐type glycogen storage disease |
title_sort | choice of diagnostic method for liver‐type glycogen storage disease |
topic | Case Images |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9576969/ https://www.ncbi.nlm.nih.gov/pubmed/36267830 http://dx.doi.org/10.1002/ccr3.6480 |
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