A novel PHKA2 variant in a Japanese boy with glycogen storage diseases type IXa

2021 ◽  
Author(s):  
Toshihiko Mori ◽  
Aki Ishikawa ◽  
Hiroko Shigetomi ◽  
Tokiko Fukuda ◽  
Hideo Sugie
Keyword(s):  
Glycogen Storage ◽  
Storage Diseases ◽  
Glycogen Storage Diseases

scholarly journals Hypertrophic Cardiomyopathy and Primary Restrictive Cardiomyopathy: Similarities, Differences and Phenocopies

2021 ◽  
Vol 10 (9) ◽  
pp. 1954
Author(s):  
Riccardo Vio ◽  
Annalisa Angelini ◽  
Cristina Basso ◽  
Alberto Cipriani ◽  
Alessandro Zorzi ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Restrictive Cardiomyopathy ◽  
Glycogen Storage ◽  
Left Ventricular ◽  
Pathophysiological Mechanism ◽  
Storage Diseases ◽  
Glycogen Storage Diseases ◽  
Similar Genetic Background ◽  
Ventricular Wall Thickness ◽  
And Storage

Hypertrophic cardiomyopathy (HCM) and primary restrictive cardiomyopathy (RCM) have a similar genetic background as they are both caused mainly by variants in sarcomeric genes. These “sarcomeric cardiomyopathies” also share diastolic dysfunction as the prevalent pathophysiological mechanism. Starting from the observation that patients with HCM and primary RCM may coexist in the same family, a characteristic pathophysiological profile of HCM with restrictive physiology has been recently described and supports the hypothesis that familiar forms of primary RCM may represent a part of the phenotypic spectrum of HCM rather than a different genetic cardiomyopathy. To further complicate this scenario some infiltrative (amyloidosis) and storage diseases (Fabry disease and glycogen storage diseases) may show either a hypertrophic or restrictive phenotype according to left ventricular wall thickness and filling pattern. Establishing a correct etiological diagnosis among HCM, primary RCM, and hypertrophic or restrictive phenocopies is of paramount importance for cascade family screening and therapy.

A novel starch for the treatment of glycogen storage diseases

2007 ◽  
Vol 30 (3) ◽  
pp. 350-357 ◽  
Author(s):  
K. Bhattacharya ◽  
R. C. Orton ◽  
X. Qi ◽  
H. Mundy ◽  
D. W. Morley ◽  
...  
Keyword(s):  
Glycogen Storage ◽  
Storage Diseases ◽  
Glycogen Storage Diseases ◽  
Novel Starch

The Dyslipidoses, Raúl Fleischmajer. Springfield, Thomas, 1960, 509 pp., $16.00

PEDIATRICS ◽  
1960 ◽  
Vol 26 (6) ◽  
pp. 914-914
Author(s):  
Benjamin H. Landing
Keyword(s):  
Fatty Acids ◽  
Lipid Metabolism ◽  
Glycogen Storage ◽  
General Survey ◽  
Storage Diseases ◽  
Glycogen Storage Diseases

This book begins with a general survey of the biochemistry and metabolism of fatty acids, glycerolipids, phospholipids, sphingolipids and cholesterol. A number of diseases involving "synthesis, transport or deposit" of these lipids are then reviewed, not including disorders of metabolism of steroids other than cholesterol, nor the carotenoids. The descriptions of clinical and pathologic aspects of the various diseases of lipid metabolism vary from good to excellent, and the author demonstrates both judgement and willingness to take a stand in some of the more controversial fields, such as the glycogen storage diseases.

The Glycogen Storage Diseases and Related Disorders

2012 ◽  
pp. 115-139 ◽  
Author(s):  
Pascal Laforêt ◽  
David A. Weinstein ◽  
G. Peter A. Smit
Keyword(s):  
Glycogen Storage ◽  
Storage Diseases ◽  
Glycogen Storage Diseases
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