Výsledky vyhledávání - "Yabushita, Ryo"

Glycogen Storage Disease Type Ia Screening Using Dried Blood Spots on Filter Paper: Application of COP-PCR for Detection of the c.648G>T G6PC Gene Mutation

Autor: Wijaya,Yogik Onky Silvana, Niba, Emma Tabe Eko, Yabushita, Ryo, Bouike, Yoshihiro, Nishio, Hisahide, Awano, Hiroyuki

Publikováno v: Kobe J Med Sci

Glycogen storage disease type Ia (GSDIa, OMIM #232200) is an autosomal recessive metabolic disease characterized by impaired glucose homeostasis and has a long-term complication of hepatocellular adenoma/carcinoma. GSDIa is caused by deleterious muta

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d2fc3b6d8dbe1fc448e6ca156f12c1aa
https://hdl.handle.net/20.500.14094/81013006

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