Yahoo Poland Wyszukiwanie w Internecie

Search results

  1. Stargardt disease is the most common inherited single-gene retinal disease. [1] In terms of the first description of the disease, [2] it follows an autosomal recessive inheritance pattern, which has been later linked to bi-allelic ABCA4 gene variants (STGD1).

  2. Nicholas Stargardt (born in 1962) is Professor of History at Oxford University, currently serving as Vice President of Magdalen College. Stargardt is the son of a German-Jewish father and Australian mother.

  3. Stargardt disease (STGD) is the most common childhood recessively inherited macular dystrophy.

  4. Stargardt disease (STGD1; MIM 248200) is the most prevalent inherited macular dystrophy and is associated with disease-causing sequence variants in the gene ABCA4.

  5. Stargardt macular dystrophy (Stargardt disease; STGD1; OMIM 248200) is the most prevalent inherited macular dystrophy. STGD1 is an autosomal recessive disorder caused by multiple pathogenic sequence variants in the large ABCA4 gene (OMIM 601691).

  6. Stargardt Disease (SD), caused ABCA4 gene mutations, is the most prevalent juvenile-onset inherited retinal disease. As SD is rare (estimated prevalence 1/10,000) with no approved treatment, we sought to better understand the SD patient journey from disease onset to clinical diagnosis and management across the world.

  7. What is Stargardt disease? Stargardt disease is a rare inherited condition affecting one in 8,000 to 10,000 people. In Stargardt’s the light-sensitive layer of cells in the macular region of the eye degenerate.

  1. Ludzie szukają również