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Glycogen Storage Disorders, What are glycogen storage disorders? Glycogen storage disorders are a group of inherited diseases that res...
McArdle’s Disease (Glycogen Storage Disease Type V), Synonyms: McArdle's syndrome, myophosphorylase deficiency, muscle glycogen phosphorylase defici...
Glycogen Storage Disorders, Type V: McArdle's disease See the separate article on McArdle's Glycogen Storage Disease...
Pompe's Glycogen Storage Disease, Synonyms: glycogen storage disease type II; acid maltase deficiency What is Pompe's glycogen...
Von Gierke's Glycogen Storage Disease, [ 1 ] Von Gierke's disease (described by von Gierke in 1929) represents the largest group of glycogen stora...
Non-alcoholic Fatty Liver Disease, Glucose can't be stored so it is turned into a storage version called glycogen. This is kept in the liver and, when we need energy, it...
Heart in Systemic Disease, Metabolic: diabetes, amyloidosis , Wilson's disease , haemochromatosis , glycogen storage disease s. Drugs a...
Protein S Deficiency, Investigations A family history is essential in assessing the association of a patient's deficiency with the patient's risk of thrombotic disease....
Legionnaires' Disease, About 3 in 10 cases of Legionnaires' disease are contracted abroad, usually due to poorly maintained water storage and air-conditioning system...
Wilson's Disease, When the copper storage capacity of the liver cells is exhausted, the copper spills into the bloodstream and deposits in other parts of the body, mainly the bra...
Slapped Cheek Disease, What is slapped cheek disease? Slapped cheek disease is sometimes called fifth disease or erythema infectiosum. It is an infection caused ...
Ménière's Disease, What is Ménière's disease? Ménière's disease is a condition of the inner ear. About 1 in a 1,000 people devel...
Tay-Sachs Disease, Complications of Tay-Sachs disease Severe difficulties with mobility and self-care lead to an enormous physical and emotional strain for the carer(s). Prog...
Gaucher's Disease, Synonyms: glucocerebrosidase deficiency, acid beta-glucosidase deficiency Gaucher's disease is the most common lysosomal storage disease...
Ménétrier's Disease, Synonyms: Menetriere's disease, giant hypertrophic gastritis, protein-losing gastropathy, hypertrophic gastropathy What is Ménétrie...
Schilder's Disease, The term diffuse cerebral sclerosis was originally used to identify a heterogeneous group of diseases affecting cerebral white matter. Most of the disease...
Moyamoya Disease, Genetic studies have identified RNF213 (also known as mysterin) as a susceptibility gene but the low penetrance in genetically susceptible individuals suggests that a furthe...
Bowen's Disease, Synonym: squamous cell carcinoma in situ What is Bowen's disease? Bowen's disease is a form of intraepidermal (in situ) squamous cell ...
Renovascular Disease, Renovascular disease is the term given to the impairment of renal perfusion caused by disease affecting the arterial supply of the kidney(s). Renal hyp...
Sickle Cell Disease (Sickle Cell Anaemia), These include: haemoglobin SC; haemoglobin S/beta thalassaemia; haemoglobin S/Lepore; haemoglobin SO Arab. The symptoms, diagno...