A gene panel that contains 142 neuromuscular disorder-related genes, including 15 genes responsible for glycogen storage disease
, was used for next-generation sequencing.
Results thus far from the ongoing ABO-102 clinical trial support the tolerability of a systemically delivered AAV approach for the treatment of lysosomal storage diseases
, stated Timothy J.
Liver storage disease
in Iran: A ten year study of liver biopsies in Children Medical Center Hospital in Tehran-Iran.
5 Specific histological features can help differentiate hepatitis, cholestatic liver disease, steatosis, vascular abnormalities, infectious diseases, and infiltrative or storage diseases
et al, High frequency of acid alpha-glucosidase pseudodeficiency complicates newborn screening for glycogen storage disease
type II in the Japanese population.
The researchers conservatively estimate that about one in 2,500 people in Nunavik may have glycogen storage disease
Glucose-6-phosphatase (G6Pase) deficiency, or Type Ia glycogen storage disease
(GSD), is characterized by poor tolerance to fasting, growth retardation, and the accumulation of glycogen and fat in the liver and kidneys.
The electrodiagnostic characteristics of Glycogen storage disease
Neutral lipid storage disease
non-bullous ichthyosiform erythroderma Jordan's anomaly.
Alpha-glucosidase deficiency in generalized glycogen storage disease
In glucogen storage disease
1a, hepatomegaly, lactic acidosis and hypoglycemia are observed as a result of decreased activity of G6Pase in the liver, kidney and intestines.
CDS is a rare autosomal recessive inherited lipid storage disease
associated with congenital ichthyotic erythroderma, and is characterized by neutral lipid accumulation in different organs, such as skin, muscle, the liver, central nervous system, and granulocytes (2), (3), (5).