Glycogenosis Type 5, McArdle Disease

2014 ◽  
pp. 217-219
Author(s):  
Corrado Angelini
Keyword(s):  
Mcardle Disease ◽  
Glycogenosis Type

Myophosphorylase Deficiency (Glycogenosis Type V McArdle Disease)

2002 ◽  
Vol 2 (2) ◽  
pp. 189-196 ◽  
Author(s):  
S. DiMauro ◽  
A. Andreu ◽  
C. Bruno ◽  
G. Hadjigeorgiou
Keyword(s):  
Mcardle Disease ◽  
Glycogenosis Type ◽  
Type V

Pre- and Peripartal Management of a Woman with McArdle Disease: A Case Report and Literature Review

2017 ◽  
Author(s):  
T Stopp ◽  
M Feichtinger ◽  
W Eppel ◽  
T Stulnig ◽  
P Husslein ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Mcardle Disease

A simple assay for amylo-1,6-glucosidase to detect heterozygotes for glycogenosis type III in erythrocytes.

1984 ◽  
Vol 30 (10) ◽  
pp. 1717-1718 ◽  
Author(s):  
Y S Shin ◽  
R Ungar ◽  
M Rieth ◽  
W Endres
Keyword(s):  
Type Iii ◽  
Glycogenosis Type

scholarly journals McArdle disease and pregnancy: A case report and scoping review of pregnancy outcomes

2021 ◽  
pp. 1753495X2110161
Author(s):  
Christopher M Nash ◽  
Nabha Shetty ◽  
Ashley Miller ◽  
Kyle McCoy
Keyword(s):  
Scoping Review ◽  
Pregnancy Outcomes ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Glycogen Metabolism ◽  
Limited Data ◽  
Genetic Condition ◽  
Second Stage ◽  
Mcardle Disease ◽  
Pregnancy And Delivery

McArdle disease is an autosomal recessive disorder affecting skeletal muscle glycogen metabolism. Limited data are available regarding pregnancy outcomes with this genetic condition. We present a recent case of a woman with McArdle disease, along with a scoping review of all published literature regarding pregnancy and delivery outcomes for women with McArdle disease. A total of 35 cases are summarised. Overall, pregnancy does not worsen or increase the risk for disease flare. Women can successfully deliver vaginally, with consideration of an assisted second stage recommended to reduce the risk of postpartum rhabdomyolysis.

scholarly journals Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II.

1985 ◽  
Vol 260 (14) ◽  
pp. 8336-8341
Author(s):  
A J Reuser ◽  
M Kroos ◽  
R P Oude Elferink ◽  
J M Tager
Keyword(s):  
Type Ii ◽  
Glycogenosis Type ◽  
Glycogenosis Type Ii ◽  
Alpha Glucosidase

Treatment of McArdle Disease

2000 ◽  
Vol 57 (7) ◽  
pp. 923 ◽  
Author(s):  
Ronald G. Haller
Keyword(s):  
Mcardle Disease
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