WebGargoyle definition: A roof spout usually in the form of a grotesque or fantastic creature projecting from a gutter to carry rainwater clear of the wall. Dictionary Thesaurus Sentences Examples Knowledge Grammar; Abbreviations ... gargoylism; gargyle; garibaldi; WebGargoylism definition: Coarse fascies and facial dysmorphia, characteristic of children with Hurler syndrome and certain other types of mucopolysaccharidosis.
gargoylism - WordReference.com Dictionary of English
WebIn architecture, and specifically Gothic architecture, a gargoyle ( / ˈɡɑːrɡɔɪl /) is a carved or formed grotesque [1] : 6–8 with a spout designed to convey water from a roof and away from the side of a building, thereby … Webgargoyle / ( ˈɡɑːɡɔɪl) / noun a waterspout carved in the form of a grotesque face or creature and projecting from a roof gutter, esp of a Gothic church any grotesque ornament or … briefly stretch gothic spoons
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WebJun 3, 2024 · Gargoylism: Also known as Hurler syndrome and mucopolysaccharidosis type I (MPS I), is a rare autosomal recessive genetic disorder that lacks the enzyme … Webgargoylism meaning in Urdu. What is gargoylism in Urdu? See pronunciation, translation, synonyms, examples, definitions of gargoylism in Urdu Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes. The inability to break down these molecules results in a wide variety … See more Children with Hurler syndrome may appear normal at birth and develop symptoms over the first years of life. Symptoms vary between patients. One of the first abnormalities that may be detected is … See more Children with Hurler Syndrome carry two defective copies of the IDUA gene, which has been mapped to the 4p16.3 site on chromosome 4. This is the gene which encodes for the protein iduronidase. As of 2024 , more than 201 different mutations in the IDUA gene … See more Diagnosis often can be made through clinical examination and urine tests (excess mucopolysaccharides are excreted in the See more A British study from 2008 found a median estimated life expectancy of 8.7 years for patients with Hurler syndrome. In comparison, the median life expectancy for all forms of MPS type I was 11.6 years. Patients who received successful bone marrow transplants … See more The IDUA gene is responsible for encoding an enzyme called alpha-L-iduronidase. Through hydrolysis, alpha-L-iduronidase is responsible for breaking down a molecule called unsulfated alpha-L-iduronic acid. This is a uronic acid found in the GAGs … See more There is currently no cure for Hurler Syndrome. Enzyme replacement therapy with iduronidase (Aldurazyme) may improve pulmonary function and mobility. It can reduce the amount … See more Hurler syndrome has an overall frequency of one per 100,000. Combined, all of the mucopolysaccharidoses have a frequency of approximately … See more briefly stop