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Fatal Infantile Cardiac Glycogenosis with Phosphorylase Kinase Deficiency and a Mutation in the γ2-Subunit of AMP-Activated Protein Kinase

  • Published:2007-10 Issue:4 Volume:62 Page:499-504
  • ISSN:0031-3998
  • Container-title:Pediatric Research
  • language:
  • Short-container-title:Pediatr Res

Author:

Akman Hasan O,Sampayo James N,Ross Fiona A,Scott John W,Wilson Gregory,Benson Lee,Bruno Claudio,Shanske Sara,Hardie D Grahame,DiMauro Salvatore

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology and Child Health

Cited by 53 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Glycogen storage diseases: An update;World Journal of Gastroenterology;2023-07-07

2. Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review;International Journal of Molecular Sciences;2023-05-11

3. Identification of the pathogenic effects of missense variants causing PRKAG2 cardiomyopathy;Archives of Biochemistry and Biophysics;2022-09

4. Glycogen storage disease: PRKAG2 syndrome;Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics);2022-06-11

5. Controversial molecular functions of CBS versus non‐CBS domain variants of PRKAG2 in arrhythmia and cardiomyopathy: A case report and literature review;Molecular Genetics & Genomic Medicine;2022-05-19
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