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In humans it is the least common type of glycogen storage disease.
It is used to distinguish different types of glycogen storage diseases.
Glycogen storage disease type I is named for him.
Perioperative management of patients with glycogen storage disease type Ia.
These are collectively referred to as glycogen storage diseases.
Unlike most other glycogen storage diseases, it directly affects glycolysis.
Glycogen storage disease is a rare hereditary metabolic disorder.
He characterized the condition now known as Glycogen storage disease type II in 1932.
Type I glycogen storage disease is inherited as an autosomal recessive genetic disorder.
An inherited disorder called glycogen storage disease.
Glycogen storage diseases that affect the liver typically cause hepatomegaly and hypoglycemia.
Mutations in the GYS1 gene are associated with glycogen storage disease type 0.
L-alanine supplementation in late infantile glycogen storage disease type II.
Glycogen storage disease type 1.
Liver damage is also a clinical feature of alpha 1-antitrypsin deficiency and glycogen storage disease type II.
Her studies involved using DHA as an oral drug for assisting children with glycogen storage disease.
All of the glycogen storage diseases are characterized by the inability to break down glycogen, but in each case this occurs for a different reason.
Rapamycin is also related to the therapy of glycogen storage disease (GSD).
The effect of L-alanine therapy in a patient with adult onset glycogen storage disease type II.
Errors in this gene cause glycogen storage disease type II (Pompe disease).
Hepatic adenomas are related to glycogen storage diseases, type 1, as well as anabolic steroid use.
Type III glycogen storage disease.
Glycogen storage diseases (associated with both HCC and hepatoblastoma)
Mutations in this gene are associated with glycogen storage disease IV (also known as Andersen's disease).
This discovery represents a potential novel therapeutic approach for glycogen storage diseases that involve glycogen accumulation in muscle.