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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 13, 2024. (Total: 232454Documents)
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Records 1 - 5 (of 5 Records)

Query Trace: Glycogen Storage Disease and G6PC[original query]
Mutation spectrum of type I glycogen storage disease in Hungary.
Journal of inherited metabolic disease 2006 1 28 (6): 939-44.
Miltenberger-Miltenyi G, Szonyi L, Balogh L, Utermann G, Janecke A
Rapid detection of glycogen storage disease type Ia by DNA microarray.
Clinical chemistry and laboratory medicine : CCLM / FESCC 2010 Sep 48 (9): 1229-34.
Xu Shanshan, Qin Shengying, Gu Xuefan, Qiu Wenjuan, Ye Jun, Han Lianshu, He L
The rs2229611 (G6PC:c.*23 T>C) is associated with glycogen storage disease type Ia in Brazilian patients.
Molecular genetics and metabolism reports 2020 10 25 100659.
Pinheiro Franciele Cabral, Sperb-Ludwig Fernanda, Fagundes Verch Juliana Maria, Dos Santos Bruna Bento, de Souza Carolina Fischinger Moura, Schwartz Ida Vanessa Doederle
Neurological Characteristics of Pediatric Glycogen Storage Disease.
Frontiers in endocrinology 2021 6 12 685272.
Muzetti Julio Henrique, do Valle Daniel Almeida, Santos Mara L S Ferreira, Telles Bruno Augusto, Cordeiro Mara
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.
The Kobe journal of medical sciences 2021 11 67 (2): E71-E78.
Wijaya Yogik Onky Silvana, Niba Emma Tabe Eko, Yabushita Ryo, Bouike Yoshihiro, Nishio Hisahide, Awano Hiroyu
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