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Illness finder is a diagnostic medicine tool for educational purpose that looks up your patients' health conditions or symptoms and diagnosis and find diseases or illnesses based on chosen gender, age, risk factors, illness, signs, symptoms and prevalence. Illnessfinder is inspired by Evidence based medicine (EMB) and healthcare that aims to apply the best (most reliable) knowledge that is available at decision time. Illnessfinder aims to free up time for the therapeutic dialogue and ensure quality at the evidence based practice, uniting proven medical findings and clinical evidence with systematised data technology.
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| Carbohydrate-Deficient Glycoprotein Syndrome | Legal notice |
Other terms
Carbohydrate Deficient Glycoprotein Syndrome,Glycoprotein Syndrome, Carbohydrate-Deficient,Carbohydrate-Deficient Glycoprotein Syndromes,Glycoprotein Syndrome, Carbohydrate Deficient,Glycoprotein Syndromes, Carbohydrate-Deficient,Syndrome, Carbohydrate-Deficient Glycoprotein,Syndromes, Carbohydrate-Deficient Glycoprotein
Description
Carbohydrate-Deficient Glycoprotein Syndrome: An inborn error of carbohydrate metabolism manifesting as a genetic multisystem disorder of autosomal recessive inheritance. A predominant feature is severe central and peripheral nervous system involvement resulting in psychomotor retardation, seizures, cerebellar ataxia, and other symptoms which include growth retardation, retinitis pigmentosa, hypothyroidism, and fatty liver. The notable biochemical feature is the deficiency of a large number of blood glycoproteins and decreased activities of various blood coagulation factors.
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Legal notice
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The version of the data is 2010 MeSH. Last reviewed April 26, 2010. No modification has been made in the content of the file.
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