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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 .
Fabry disease is an X-linked disease, affecting 1 in 40,000 males. However, unlike other X-linked diseases, this condition also creates significant medical problems for females carrying only 1 copy of the defective GLA gene. These women may experience many classic symptoms of the disorder including cardiac and kidney problems.
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 ...
[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.
Fabry disease; A lysosomal storage disease causing anhidrosis, fatigue, angiokeratomas, burning extremity pain, and ocular involvement. Hunter syndrome; potentially causing hearing loss, thickening of the heart valves leading to a decline in cardiac function, obstructive airway disease, sleep apnea, and enlargement of the liver and spleen.
A Connecticut boy is among four children all born with severe childhood blindness who gained “life-changing improvements” to their vision after an experimental trial of gene therapy. Jace was ...
The recommended daily intake of vitamin C is 90 milligrams for men and 75 milligrams for women, ... free radicals associated with cancer and heart disease,” registered dietitian Jackie ...
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