Literature DB >> 36267830

Choice of diagnostic method for liver-type glycogen storage disease.

Toshihiko Kakiuchi1, Yumeng Zhang1.   

Abstract

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.
© 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

Entities:  

Keywords:  biopsy; enzymology; genetic testing; glycogen storage disease type VI

Year:  2022        PMID： 36267830      PMCID： PMC9576969          DOI： 10.1002/ccr3.6480

Source DB:  PubMed          Journal:  Clin Case Rep        ISSN： 2050-0904


  2 in total

Review 1.  The molecular background of glycogen metabolism disorders.

Authors:  O N Elpeleg
Journal:  J Pediatr Endocrinol Metab       Date:  1999 May-Jun       Impact factor: 1.634

2.  Liver biopsy is an important procedure in the diagnosis of glycogen storage disease type IV.

Authors:  Tatsuki Mizuochi; Akihiko Kimura; Hiroshi Nishiura; Yukihiro Inomata; Hideaki Okajima; Hideo Sugie; Hiroshi Mitsubuchi; Minoru Yagi; Masayoshi Kage
Journal:  Pediatr Int       Date:  2011-02       Impact factor: 1.524
  2 in total

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