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S.M., sometimes referred to as SM-046, is an American woman with a peculiar type of brain damage that physiologically reduces her ability to feel fear.First described by scientists in 1994, [1] she has had exclusive and complete bilateral amygdala destruction since late childhood as a consequence of Urbach–Wiethe disease.
Urbach–Wiethe disease is inherited in an autosomal recessive manner. Urbach–Wiethe disease is a very rare recessive genetic disorder, with approximately 400 reported cases since its discovery. [1] [2] [3] It was first officially reported in 1929 by Erich Urbach and Camillo Wiethe, [4] [5] although cases may be recognized dating back as ...
Urbach-Wiethe disease (UWD) is a rare genetic disorder characterized by early damage to the basolateral amygdala. Perhaps more than 50% of the world's population of UWD live in South Africa, and together with his doctoral student, Helena Thornton , Stein initiated work on the neuropsychology of UWD.
Lipoid proteinosis, also known as Urbach–Wiethe disease This page was last edited on 29 December 2019, at 06:13 (UTC). Text is available under the Creative Commons ...
The Defense Centers of Excellence for Psychological Health and Traumatic Brain Injury’s 24/7 live chat outreach center (also at 866-966-1020 or email resources@dcoeoutreach.org). The Pentagon website Military OneSource for short-term, non-medical counseling. Veterans can call, text or chat with the Veterans Crisis Line. Dial 800-273-8255.
The Defense Centers of Excellence for Psychological Health and Traumatic Brain Injury’s 24/7 live chat outreach center (also at 866-966-1020 or email resources@dcoeoutreach.org). The Pentagon website Military OneSource for short-term, non-medical counseling. Veterans can call, text or chat with the Veterans Crisis Line. Dial 800-273-8255.
Hypochondrogenesis is one of the most severe conditions in a spectrum of disorders caused by mutations in the COL2A1 gene.The protein made by this gene forms type II collagen, a molecule found mostly in cartilage and in the clear gel that fills the eyeball (the vitreous).
Metaphyseal chondrodysplasia Schmid type is a type of chondrodysplasia associated with a deficiency of collagen, type X, alpha 1. [2] [3] [4]Unlike other "rickets syndromes", affected individuals have normal serum calcium, phosphorus, and urinary amino acid levels.