Literature DB >> 10874322

A novel missense mutation (P191L) in the glucose-6-phosphate translocase gene identified in a Chinese family with glycogen storage disease 1b.

C W Lam1, K Y Chan, S F Tong, B Y Chan, Y T Chan, Y W Chan.   

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Year:  2000        PMID： 10874322     DOI： 10.1002/1098-1004(200007)16:1<94::AID-HUMU26>3.0.CO;2-Q

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  3 in total

Review 1.  Genotype/phenotype correlation in glycogen storage disease type 1b: a multicentre study and review of the literature.

Authors:  Daniela Melis; Rossella Fulceri; Giancarlo Parenti; Paola Marcolongo; Rosanna Gatti; Rossella Parini; Enrica Riva; Roberto Della Casa; Enrico Zammarchi; Generoso Andria; Angelo Benedetti
Journal:  Eur J Pediatr       Date:  2005-05-19       Impact factor: 3.183

2.  Mutation analysis of SLC37A4 in a patient with glycogen storage disease-type Ib.

Authors:  Yamei Zhang; Huihui Sun; Naijun Wan
Journal:  J Int Med Res       Date:  2019-10-16       Impact factor: 1.671

3.  Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib.

Authors:  Caiqi Du; Zhuoguang Li; Hong Wei; Min Zhang; Minghui Hu; Cai Zhang; Xiaoping Luo; Yan Liang
Journal:  BMC Med Genomics       Date:  2021-03-17       Impact factor: 3.063
  3 in total

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