Hurler syndrome laboratory findings: Difference between revisions
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{{Hurler syndrome}} | {{Hurler syndrome}} | ||
{{CMG}} | {{CMG}}; {{AE}} | ||
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==Overview== | ==Overview== | ||
Diagnosis often can be made through clinical examination and urine tests (excess mucopolysaccharides are excreted in the [[urine]]). Enzyme assays (testing a variety of cells or body fluids in culture for enzyme deficiency) are also used to provide definitive diagnosis of one of the mucopolysaccharidoses. [[Prenatal diagnosis]] using [[amniocentesis]] and [[chorionic villus sampling]] can verify if a [[fetus]] either carries a copy of the defective [[gene]] or is affected with the disorder. [[Genetic counseling]] can help parents who have a family history of the mucopolysaccharidoses determine if they are carrying the mutated gene that causes the disorders. | Diagnosis often can be made through clinical examination and urine tests (excess mucopolysaccharides are excreted in the [[urine]]). Enzyme assays (testing a variety of cells or body fluids in culture for enzyme deficiency) are also used to provide definitive diagnosis of one of the mucopolysaccharidoses. [[Prenatal diagnosis]] using [[amniocentesis]] and [[chorionic villus sampling]] can verify if a [[fetus]] either carries a copy of the defective [[gene]] or is affected with the disorder. [[Genetic counseling]] can help parents who have a family history of the mucopolysaccharidoses determine if they are carrying the mutated gene that causes the disorders. | ||
==Laboratory Findings== | |||
==References== | ==References== | ||
{{Reflist|2}} | |||
[[Category:Needs content]] | [[Category:Needs content]] | ||
[[Category:Gastroenterology]] | [[Category:Gastroenterology]] | ||
[[Category:Hepatology]] | [[Category:Hepatology]] | ||
[[Category:Cardiology]] | [[Category:Cardiology]] | ||
[[Category:Psychiatry]] | [[Category:Psychiatry]] | ||
[[Category:Disease]] | [[Category:Disease]] | ||
{{WS}} | |||
{{WH}} | |||
Latest revision as of 13:29, 19 July 2016
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Overview
Diagnosis often can be made through clinical examination and urine tests (excess mucopolysaccharides are excreted in the urine). Enzyme assays (testing a variety of cells or body fluids in culture for enzyme deficiency) are also used to provide definitive diagnosis of one of the mucopolysaccharidoses. Prenatal diagnosis using amniocentesis and chorionic villus sampling can verify if a fetus either carries a copy of the defective gene or is affected with the disorder. Genetic counseling can help parents who have a family history of the mucopolysaccharidoses determine if they are carrying the mutated gene that causes the disorders.