Search results
Results from the WOW.Com Content Network
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 ...
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.
Hypochondrogenesis is a severe genetic disorder causing malformations of bone growth. [1] The condition is characterized by a short body and limbs and abnormal bone formation in the spine and pelvis.
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 ...
Urbach–Wiethe disease; Urban–Rogers–Meyer syndrome; Urban–Schosser–Spohn syndrome; Urea cycle enzymopathies; Uremia; Urethral obstruction sequence; Uridine monophosphate synthetase deficiency; Urinary calculi; Urinary tract neoplasm; Urioste–Martinez–Frias syndrome; Urocanase deficiency; Urogenital adysplasia; Urophathy distal ...
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.
Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in dwarfism, characteristic skeletal abnormalities, and problems with vision. [1]
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.