Literature DB >> 20331987

Low level of fasting plasma mannose in a child with glycogen storage disease type 0 (liver glycogen synthase deficiency).

Ichitomo Miwa, Tadao Taguchi, Hisaki Asano, Tomiyasu Murata, Tohru Yorifuji, Hironori Nagasaka, Tomozumi Takatani.   

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Year:  2010        PMID： 20331987     DOI： 10.1016/j.cca.2010.03.024

Source DB:  PubMed          Journal:  Clin Chim Acta        ISSN： 0009-8981            Impact factor:   3.786


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  3 in total

1.  Sustained high plasma mannose less sensitive to fluctuating blood glucose in glycogen storage disease type Ia children.

Authors:  Hironori Nagasaka; Tohru Yorifuji; Robert H J Bandsma; Tomozumi Takatani; Hisaki Asano; Hiroshi Mochizuki; Mayuko Takuwa; Hirokazu Tsukahara; Ayano Inui; Tomoyuki Tsunoda; Haruki Komatsu; Eitaro Hiejima; Tomoo Fujisawa; Ken-Ichi Hirano; Takashi Miida; Akira Ohtake; Tadao Taguchi; Ichitomo Miwa
Journal:  J Inherit Metab Dis       Date:  2012-09-13       Impact factor: 4.982

2.  Novel GYS2 mutations in a Japanese patient with glycogen storage disease type 0a.

Authors:  Hiroyuki Iijima; Yasuhiko Ago; Ryoji Fujiki; Takaaki Takayanagi; Mitsuru Kubota
Journal:  Mol Genet Metab Rep       Date:  2021-01-10

Review 3.  A patient with glycogen storage disease type 0 and a novel sequence variant in GYS2: a case report and literature review.

Authors:  Janez Jan Arko; Marusa Debeljak; Mojca Zerjav Tansek; Tadej Battelino; Urh Groselj
Journal:  J Int Med Res       Date:  2020-08       Impact factor: 1.671
  3 in total

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