Friedreich’s ataxia – causes, symptoms, diagnosis, treatment, pathology

Friedreich’s ataxia is a disorder where there’s a buildup of iron that damages various organ systems – in particular, the…

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Protein C and S deficiency – causes, symptoms, diagnosis, treatment, pathology

Protein C and S are two anticoagulation proteins that inactivate coagulation factors Va and VIIIa in the coagulation cascade. This…

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Posttransplant lymphoproliferative disorders – causes, symptoms, diagnosis, treatment, pathology

Posttransplant lymphoproliferative disorders, or PTLDs, are uncontrolled growths of cells called lymphocytes that may occur in transplant recipients after receiving…

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Managing Your Risk: The Obesity Paradox – Can Genetics Provide a Clue?

Paradox, when thinner means sicker and heavier means healthier. Now, wait a minute. That’s just – that sounds like this…

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Gaucher disease – causes, symptoms, diagnosis, treatment, pathology

Gaucher disease is an inherited condition characterized by insufficient levels of the enzyme glucocerebrosidase, also called beta-glucosidase. It’s named for…

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Cystinosis – causes, symptoms, diagnosis, treatment, pathology

With cystinosis, “cystin-” refers to cystine, an amino acid, and “-osis” implies disease. So, cystinosis is a rare condition caused…

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