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11 results

  1. Disorders of Intracellular Cobalamin Metabolism - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1328
    ... B 12 serum concentration reverses the metabolic abnormality. Imerslund Gräsbeck syndrome (OMIM 261100 ). Features of this autosomal recessive disorder ... 1997; 36 :8082–91. [ PubMed : 9201956 ] Gräsbeck R. Imerslund-Gräsbeck syndrome (selective vitamin B(12) malabsorption with proteinuria). Orphanet ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Imerslund-Gräsbeck syndrome</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  3. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/imerslund-grasbeck-syndrome</url><title >Imerslund-Gräsbeck syndrome</title><other_names >< ...
  4. Resources for Genetics Professionals — Genetic Disorders Associated with Founder Variants Common in the Sephardic ... 
    https://www.ncbi.nlm.nih.gov/books/NBK588574
    ... 1 Kaback et al [2010] , Zlotogora [2015] AMN Imerslund-Gräsbeck syndrome type 2 (OMIM 618882 ) AR c.208-2A> ... Tanner SM. Ancient founder mutation is responsible for Imerslund-Gräsbeck Syndrome among diverse ethnicities. Orphanet J Rare Dis. 2011; ...
  5. Genetic Steroid-Resistant Nephrotic Syndrome Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK573219
    ... AR Albuminuria, megaloblastic anemia ± epilepsy (OMIM 618884 ) 4 Imerslund-Gräsbeck syndrome 1 (OMIM 261100 ), intestinal malabsorption of vitamin B ...
  6. Anemia 
    https://medlineplus.gov/anemia.html
    Anemia occurs when your blood doesn't carry enough oxygen to the rest of your body. Read about conditions that lead to it and treatments available. ... If you ...
  7. Isolated Methylmalonic Acidemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1231
    ... w/significant brain myelination defects 2 AMN CUBN Imerslund-Grasbeck syndrome (OMIM PS261100 ) Low serum B 12 , combined methylmalonic ...
  8. Imerslund-Gräsbeck syndrome 
    https://medlineplus.gov/.../condition/imerslund-grasbeck-syndrome
    Imerslund-Gräsbeck syndrome is a condition caused by low levels of vitamin B12 (also known as cobalamin). The primary feature of this condition is a blood disorder ...
  9. AMN gene 
    https://medlineplus.gov/genetics/gene/amn
    ... the AMN gene have been found to cause Imerslund-Gräsbeck syndrome. This condition is characterized by low levels of ... have neurological problems.AMN gene mutations that cause Imerslund-Gräsbeck syndrome reduce the amount or function of the amnionless ...
  10. CUBN gene 
    https://medlineplus.gov/genetics/gene/cubn
    ... have been found to cause a condition called Imerslund-Gräsbeck syndrome. This condition is characterized by low levels of ...