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Review 1. Glycogen storage disease type Ia: recent experience with mutation analysis, a summary of mutations reported in the literature and a newly developed diagnostic flow chart.

Authors: J P Rake; A M ten Berge; G Visser; E Verlind; K E Niezen-Koning; C H Buys; G P Smit; H Scheffer
Journal: Eur J Pediatr Date: 2000-05 Impact factor: 3.183

2. Mutation analysis in 24 French patients with glycogen storage disease type 1a.

Authors: F Chevalier-Porst; D Bozon; A M Bonardot; N Bruni; G Mithieux; M Mathieu; I Maire
Journal: J Med Genet Date: 1996-05 Impact factor: 6.318

3. Molecular aspects of glycogen storage disease type Ia in Turkish patients: a novel mutation in the glucose-6-phosphatase gene.

Authors: G Hüner; T Podskarbi; M Schütz; T Baykal; G Sarbat; Y S Shin; M Demirkol
Journal: J Inherit Metab Dis Date: 1998-06 Impact factor: 4.982

3 in total

1. Mutation spectrum of type I glycogen storage disease in Hungary.

Authors: G Miltenberger-Miltenyi; L Szonyi; L Balogh; G Utermann; A R Janecke
Journal: J Inherit Metab Dis Date: 2005 Impact factor: 4.982

Review 2. 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

Review 3. Glycogen storage diseases: new perspectives.

Authors: Hasan Ozen
Journal: World J Gastroenterol Date: 2007-05-14 Impact factor: 5.742

3 in total