Fabry disease

To date the frequency of Fabry disease among general population has been estimated to be around 1:40,000.

Agalsidase beta is used in the treatment of Fabry disease.

There are about 5,000 people in the world with Fabry disease, a deficiency of an enzyme.

The life expectancy of males with Fabry disease is estimated to be approximately 40 -60 years.

An infusion of hope for Fabry disease patients.

Fabry disease, which is inherited as an X-linked trait, affects males and females.

This is a symptom of Fabry disease.

This finding is consistent with a prolongation of the cerebral vascular response time in the Fabry disease.

Acroparesthesia is severe pain in the extremities, and may be caused by Fabry disease, a type of sphingolipidosis.

Acroparesthesia in Fabry disease is believed to be related to the damage of peripheral nerve fibers that transmit pain.

There are other treatments such as the prescription of certain drugs like phenytoin and carbamazepine to treat pain for patients with Fabry disease.

The current study examines the cerebrovascular system in Fabry disease in response to functional and pharmacological activation.

Functional activation by visual stimulation was chosen to examine the vertebro-basilar diathesis of Fabry disease.

Pediatricians as well as internists commonly misdiagnose Fabry disease.

Dr. Robert J. Desnick on the treatment of Fabry disease.

Kidney biopsy may also be suggestive of Fabry Disease if excessive lipid buildup is noted.

House (Epic Fail, season 6 episode 3) centers on a patient with Fabry Disease.

However, patients with Fabry disease have isolated small fiber engagement, and can have a more widespread small fiber disruption.

They are generally inherited in an autosomal recessive fashion, but notably Fabry disease is X-linked.

B-mannosidase deficiency is a rare autosomal recessive condition characterized by angiokeratomas similar to those seen with Fabry disease.

Scrubs (My Catalyst, season 3 episode 12) features a Fabry Disease diagnosis.

A pipetting robot extracts DNA from specimens and analyses them for Fabry disease.

Yet it is not clear that TKT is using the controversial technique to produce its drug for Fabry disease.

The failure increases the chances that the Genzyme Corporation will win the battle to obtain the first approval for a drug to treat Fabry disease.

Shire's treatment for Fabry disease benefited from Genzyme's troubles, but boom may be over Continue reading...