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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.
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 ...
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.
TikTok star Beandri Booysen, known for her inspirational social media videos, has died. She was 19. On Wednesday, Dec. 18, Beandri's mom, Bea Booysen, confirmed on Facebook that the teenager had ...
Spondyloepiphyseal dysplasia congenita (abbreviated to SED more often than SDC) is a rare disorder of bone growth that results in dwarfism, [1] characteristic skeletal abnormalities, and, in some instances, problems with vision and hearing.
Urbach–Wiethe disease was a Natural sciences good articles nominee, but did not meet the good article criteria at the time. There may be suggestions below for improving the article. There may be suggestions below for improving the article.
Otospondylomegaepiphyseal dysplasia (OSMED) is an autosomal recessive disorder of bone growth that results in skeletal abnormalities, severe hearing loss, and distinctive facial features. [1]