Fatal Infantile Cardiac Glycogenosis with Phosphorylase Kinase Deficiency and a Mutation in the γ2-Subunit of AMP-Activated Protein Kinase-Reference-Cited by-同舟云学术

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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

Reference38 articles.

1. A new type of glycogen storage disease caused by deficiency of cardiac phosphorylase kinase

2. Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency

3. Fatal infantile hypertrophic cardiomyopathy secondary to deficiency of heart specific phosphorylase b kinase

4. Infantile Hypertrophic Cardiomyopathy of Glycogenosis Type IX: Isolated Cardiac Phosphorylase Kinase Deficiency

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1. PRKAG2‐Related Lethal Congenital Glycogen Storage Disease of the Heart as Rare Cause of Fetal Hydrops With Bradycardia and Cardiomyopathy: Clinical Report and Literature Review;American Journal of Medical Genetics Part A;2024-08-30

2. When Paying Attention Pays Back: Missense Mutation c.1006G>A p. (Val336Ile) in PRKAG2 Gene Causing Left Ventricular Hypertrophy and Conduction Abnormalities in a Caucasian Patient: Case Report and Literature Review;International Journal of Molecular Sciences;2024-08-23

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

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

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

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