Mucopolysaccharide Storage Disease Type I: Hurler, Hurler-Scheie, and Scheie syndromes

Mucopolysaccharidosis type I, or MPS I, is a rare genetic metabolic disorder caused by deficiency of a lysosomal enzyme required to break down mucopolysaccharides. The disorder presents as […]

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Guillain-Barre Syndrome – causes, symptoms, diagnosis, treatment, pathology

Guillain-Barré syndrome is named after two neurologists- Georges Guillain and Jean Barré, and it’s a demyelinating disease of the peripheral nervous system, which includes all of the neurons […]

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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 the French physician, Philippe Gaucher, who first described […]

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CMV infection after transplant

Cytomegalovirus, or CMV, is an enveloped double-stranded DNA virus that belongs to the herpesviridae family. It’s one of the most common viruses to cause severe infection in individuals […]

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

Fabry disease is a rare X-linked condition caused by mutations or pathogenic variants in the GLA gene that codes for a lysosomal enzyme called alpha galactosidase A or […]

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Anemia of chronic disease

Learning medicine is hard work! Osmosis makes it easy. It takes your lectures and notes to create a personalized study plan with exclusive videos, practice questions and flashcards, […]

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Rickettsia rickettsii & other Rickettsia species – causes, symptoms, diagnosis, treatment, pathology

The Rickettsiae are a genus of Gram-negative coccobacilli, which includes two major groups of bacteria. First, there’s the spotted-fever group, the main species in this group is Rickettsia […]

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Are you at risk of an adenovirus infection?

Adenoviruses have been in the news recently as there was a recent outbreak of adenovirus infections in New Jersey that has been responsible for the deaths of at […]

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Myasthenia gravis – causes, symptoms, treatment, pathology

Myasthenia gravis, is a Latin expression that literally means “grave muscle weakness,” which perfectly describes the weakness that happens when this autoimmune disease affects the skeletal muscles. People […]

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

Pompe disease, also called glycogen storage disease type II, is a genetically inherited condition caused by insufficient functioning of an enzyme called lysosomal acid alpha-1,4-glucosidase, or just acid […]

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