Literature DB >> 10234610

Glycogen storage disease type 1a in three siblings with the G270V mutation.

R Parvari1, J Isam, S W Moses.   

Abstract

Glycogen storage disease type 1a (von Gierke disease, GSD1a) is caused by the deficiency of microsomal glucose-6-phosphatase (G6Pase) activity. The cloning of G6Pase cDNA and characterization of the human G6Pase gene enabled the identification of the mutations causing GSD1a. Here we report on the clinical and biochemical features of three GSD1a siblings of a Muslin Arab family with a G270V mutation. Two older patients presented with an unusually mild clinical and biochemical course.

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Year:  1999        PMID： 10234610     DOI： 10.1023/a:1005445802822

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


  14 in total

1.  Prenatal diagnosis of glycogen storage disease type 1a by single stranded conformation polymorphism (SSCP).

Authors:  R Parvari; E Hershkovitz; R Carmi; S Moses
Journal:  Prenat Diagn       Date:  1996-09       Impact factor: 3.050

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.  [Long-term course of hepatic glycogenosis. A retrospective study of 76 cases].

Authors:  L de Parscau; P Guibaud; P Labrune; M Odièvre
Journal:  Arch Fr Pediatr       Date:  1988-11

4.  Metabolic control and renal dysfunction in type I glycogen storage disease.

Authors:  J I Wolfsdorf; L M Laffel; J F Crigler
Journal:  J Inherit Metab Dis       Date:  1997-08       Impact factor: 4.982

5.  Glycogen storage disease type 1a in Israel: biochemical, clinical, and mutational studies.

Authors:  R Parvari; K J Lei; N Bashan; E Hershkovitz; S H Korman; V Barash; T Lerman-Sagie; H Mandel; J Y Chou; S W Moses
Journal:  Am J Med Genet       Date:  1997-10-31

Review 6.  Glycogen storage disease in adults.

Authors:  G M Talente; R A Coleman; C Alter; L Baker; B I Brown; R A Cannon; Y T Chen; J F Crigler; P Ferreira; J C Haworth; G E Herman; R M Issenman; J P Keating; R Linde; T F Roe; B Senior; J I Wolfsdorf
Journal:  Ann Intern Med       Date:  1994-02-01       Impact factor: 25.391

Review 7.  Glycogen storage disease I and hepatocellular tumours.

Authors:  L Bianchi
Journal:  Eur J Pediatr       Date:  1993       Impact factor: 3.183

8.  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

9.  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

10.  Structure-function analysis of human glucose-6-phosphatase, the enzyme deficient in glycogen storage disease type 1a.

Authors:  K J Lei; C J Pan; J L Liu; L L Shelly; J Y Chou
Journal:  J Biol Chem       Date:  1995-05-19       Impact factor: 5.157
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  2 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

2.  Molecular, Biochemical, and Clinical Characterization of Thirteen Patients with Glycogen Storage Disease 1a in Malaysia.

Authors:  Siti Aishah Abdul Wahab; Yusnita Yakob; Mohd Khairul Nizam Mohd Khalid; Noraishah Ali; Huey Yin Leong; Lock Hock Ngu
Journal:  Genet Res (Camb)       Date:  2022-09-13       Impact factor: 1.375
  2 in total

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