Cargando…

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.

Detalles Bibliográficos
Autores principales: Kakiuchi, Toshihiko, Zhang, Yumeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2022
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
_version_ 1784811649579876352
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
work_keys_str_mv AT kakiuchitoshihiko choiceofdiagnosticmethodforlivertypeglycogenstoragedisease
AT zhangyumeng choiceofdiagnosticmethodforlivertypeglycogenstoragedisease