glycogen storage disease


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glycogen storage disease

n.
Any of various genetic diseases caused by deficiency of one of the enzymes involved in breaking down or synthesizing glycogen, resulting in storage of abnormal amounts or types of glycogen and often affecting the liver, muscles, or both. Also called glycogenosis.
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Glycogen storage diseases in animals and their potential value as models of human disease.
Detection of a novel mutation in the GAA gene in an Iranian child with glycogen storage disease type II.
Sung et al., "Hepatocyte transplantation for glycogen storage disease type Ib," Cell Transplantation, vol.
Examples of metabolic diseases with hepatic presentation are tyrosinemia, Wilson's disease, progressive familial intrahepatic cholestasis (PFIC), Aagenaes syndrome, glycogen storage disease, non-alcoholic steatohepatitis (NASH)12-14.
Proof-of-concept study to evaluate VK2809 for the treatment of glycogen storage disease type la (GSD la) planned for 2H17.
Glycogen storage disease was the most common metabolic disorder in 12(16.2%) patients and chronic hepatitis was the most frequent inflammatory disorder and was seen in 9(12.2%) (Table-2).
Pompe disease is an unique glycogen storage disease with a lysosomal metabolism defect and autosomal recessive trait.
Pompe's disease (PD), or glycogen storage disease type II (OMIM 232300) is an autosomal recessive disorder caused by a deficiency in the activity of the lysosomal enzyme acid alpha-glucosidase (GAA; EC.3.2.1.20), an enzyme that degrades lysosomal glycogen.
George Morrison, six, has rare glycogen storage disease, which means his liver does not release glucose for vital energy.
DISCUSSION: Pompe disease, also known as glycogen storage disease type II, is an inherited disorder whose primary symptom is progressive weakness in the muscles used for mobility and breathing.
Pulmonary hypertension with unclear multifactorial mechanisms 5.1 Haematological disorders: chronic haemolytic anaemia, myeloproliferative disease, splenectomy 5.2 Systemic disorders: sarcoidosis, pulmonary histiocytosis, lymphangioleiomyomatosis 5.3 Metabolic disorders: glycogen storage disease, Gaucher's disease, thyroid disorders 5.4 Others: tumour obstruction, fibrosing mediastinitis, chronic renal failure, segmental pulmonary hypertension
A GENETIC MUTATION RESPONSIBLE FOR GLYCOGEN STORAGE disease type Ilia has been identified in Inuit in northern Quebec by a team of Canadian and Japanese researchers.

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