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15 results
  1. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... have normal kidney function.</html:p><html:p >Imerslund-Gräsbeck syndrome typically begins in infancy or early childhood. The blood abnormality leads to many of the signs and symptoms of the condition, including an inability to grow ...
  2. Imerslund-Gräsbeck syndrome 
    https://medlineplus.gov/.../condition/imerslund-grasbeck-syndrome
    ... Gräsbeck syndrome appear to have normal kidney function.Imerslund-Gräsbeck syndrome typically begins in infancy or early childhood. The blood abnormality leads to many of the signs and symptoms of the condition, including an inability to grow ...
  3. 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 ...
  4. 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 >< ...
  5. 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 ... from a specialized metabolic center. Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  6. 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; ...
  7. 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 ... of Genetic Steroid-Resistant Nephrotic Syndrome For early diagnosis and treatment First degree relatives, including sibs, should ...
  8. Anemia | MedlinePlus 
    https://medlineplus.gov/anemia.html
    ... iron overload: MedlinePlus Genetics (National Library of Medicine) Imerslund-Gräsbeck syndrome: MedlinePlus Genetics (National Library of Medicine) Iron-refractory ...
  9. NLM Digital Collections - Eponymous syndromes : MEDLARS indexing instructions 
    Publication: [Bethesda, Md..] : National Library of Medicine, Bibliographic Services Division, Index Section, 1970
    resource.nlm.nih.gov/0262340
    ... DISEASES, INFECTIOUS (IM) Hyde's syndrome SKIN DISEASES (IM) Imerslund-Grasbeck syndrome ANEMIA, MACROCYTIC Aamilial (IM) CHRONIC DISEASE (NIM) DYSPNEA ( ... Treitz's hernia HERNIA (IM) RETROPERITONEAL SPACE (IM) Trendelenburg's symptom PARALYSIS (IM) BUTTOCKS (IM) GAIT (IM) | TURNER'S SYNDROME ( ...
  10. NLM Digital Collections - MEDLARS indexing and searching aids 
    Publication: Springfield, Va. : National Technical Information Service, 1972
    resource.nlm.nih.gov/0367351
    ... INFECTIOUS (IM) Hyde's syndrome SKIN DISEASES (IM) 63 Imerslund-Grasbeck syndrome ANEMIA, MACROCYTIC *familial (IM) CHRONIC DISEASE (NIM) DYSPNEA ( ... ATROPHY (NIM) EUNUCHISM (IM) MENTAL RETARDATION (NIM) Southworth's symptom complex HEMATURIA Chemically (IM) ABDOMEN (IM) PAIN (NIM) ...
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