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Fabry disease, also known as Anderson–Fabry disease, is a rare genetic disease that can affect many parts of the body, including the kidneys, heart, brain, and skin. [1] Fabry disease is one of a group of conditions known as lysosomal storage diseases .
[5]: 589 The disease is named after Italian dermatologist Vittorio Mibelli (1860-1910). [6] Angiokeratoma of Fordyce (also known as "Angiokeratoma of the scrotum and vulva," though not to be confused with Fordyce's spots) [5] is a skin condition characterized by red to blue papules on the scrotum or vulva.
Enzyme replacement therapy is available to treat mainly Fabry disease and Gaucher disease, and people with these types of sphingolipidoses may live well into adulthood. The other types are generally fatal by age 1 to 5 years for infantile forms, but progression may be mild for juvenile- or adult-onset forms.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
4D Molecular Therapeutics Inc (NASDAQ: FDMT) has posted updated interim data from the Phase 1/2 trial of 4D-310 in Fabry disease at the 18th Annual WORLDSymposium. Following 4D-310 infusion, mean ...
Cornea verticillata: A bilateral, whorl-like corneal pattern of cream colored lines in a patient with Fabry disease. Specialty: Ophthalmology: Treatment: Discontinuation of the offending drug results in complete resolution of the opacity.
Genzyme Convenes 13 th European Fabry Disease Roundtable CAMBRIDGE, Mass.--(BUSINESS WIRE)-- Genzyme, a Sanofi company (EURONEXT: SAN and NYSE: SNY), today announced that the 13th European Fabry ...
Cushing’s disease (Hyperadrenocorticism) Cushing's disease is a hormonal disorder causing excessive cortisol production. This can lead to increased urination and increased thirst. Dogs with ...