Literature DB >> 8739966

Verification of diagnosis in a 17-year-old boy with clinical glycogen storage disease type Ia by mutation screening.

D Matern1, H Niederhoff, M Brandis, J Y Chou.   

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Year:  1996        PMID： 8739966     DOI： 10.1007/bf01799430

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  7 in total

1.  Diagnosis of glycogen storage disease.

Authors:  Y S Shin
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Identification of mutations in the gene for glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

Authors:  K J Lei; C J Pan; L L Shelly; J L Liu; J Y Chou
Journal:  J Clin Invest       Date:  1994-05       Impact factor: 14.808

3.  Mutations in the glucose-6-phosphatase gene that cause glycogen storage disease type 1a.

Authors:  K J Lei; L L Shelly; C J Pan; J B Sidbury; J Y Chou
Journal:  Science       Date:  1993-10-22       Impact factor: 47.728

4.  Genetic basis of glycogen storage disease type 1a: prevalent mutations at the glucose-6-phosphatase locus.

Authors:  K J Lei; Y T Chen; H Chen; L J Wong; J L Liu; A McConkie-Rosell; J L Van Hove; H C Ou; N J Yeh; L Y Pan
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

5.  The long-term outcome of patients with glycogen storage disease type Ia.

Authors:  G P Smit
Journal:  Eur J Pediatr       Date:  1993       Impact factor: 3.183

6.  Mutations in the glucose-6-phosphatase gene are associated with glycogen storage disease types 1a and 1aSP but not 1b and 1c.

Authors:  K J Lei; L L Shelly; B Lin; J B Sidbury; Y T Chen; R C Nordlie; J Y Chou
Journal:  J Clin Invest       Date:  1995-01       Impact factor: 14.808

7.  Characterization of the mutations in the glucose-6-phosphatase gene in Israeli patients with glycogen storage disease type 1a: R83C in six Jews and a novel V166G mutation in a Muslim Arab.

Authors:  R Parvari; S Moses; E Hershkovitz; R Carmi; N Bashan
Journal:  J Inherit Metab Dis       Date:  1995       Impact factor: 4.982
  7 in total
  1 in total

Review 1.  Mutations in the glucose-6-phosphatase-alpha (G6PC) gene that cause type Ia glycogen storage disease.

Authors:  Janice Y Chou; Brian C Mansfield
Journal:  Hum Mutat       Date:  2008-07       Impact factor: 4.878
  1 in total

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