X-linked adrenoleukodystrophy (X-ALD) is a debilitating disease caused by mutations in the ABCD1 gene. Approximately 30% of affected boys develop the progressive ...
Quentin M. Anstee, B.Sc., M.B.B.S., Ph.D., M.R.C.P.; Ann K. Daly, B.Sc., Ph.D.; Christopher P. Day, B.A.,M.B., B.Chir.,M.A. (Cambridge), Ph.D.,M.D., F.R.C.P., F.Med ...
X-ALD is a CNS demyelinating disorder ... “This is the first time that a severe disease of the brain has been treated with success by gene therapy,” says Aubourg. He points out, however ...
It is either tragically funny or devastatingly sad that while a genetic counselor explained the random lunacy of my son’s ...
X-Linked Adrenoleukodystrophy (X-ALD ... A public health program that tests newborns for certain genetic, endocrine, and metabolic disorders shortly after birth to enable early diagnosis and ...
ALD is an X-linked metabolic disease affecting 1 in 21,000 newborn boys worldwide, of whom around 40% go on to developed cALD. In patient with the disease a genetic mutation causes the build-up of ...
It’s a rare genetic disorder that impacts a small population, and due to limited research, much remains unknown about ...
Inspired by their 9-month old son William, who was diagnosed with ALD after a newborn screening, the Hall family seeks to jumpstart research into the rare disease, in partnership with The Dallas ...
X-linked adrenoleukodystrophy is a genetic disorder that mainly affects ... VLCFAs are considered biomarkers of disease in patients with X-ALD. Treatment with VK0214 resulted in significant ...