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30 results
  1. Shwachman-Diamond syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/.../condition/shwachman-diamond-syndrome
    ... gov Catalog of Genes and Diseases from OMIM SHWACHMAN-DIAMOND SYNDROME 1; SDS1 Scientific Articles on PubMed PubMed References Ball HL, Zhang B, Riches JJ, Gandhi R, ...
  2. Pancreatic Disorders | MedlinePlus 
    https://medlineplus.gov/pancreaticdiseases.html
    ... of Diabetes and Digestive and Kidney Diseases) Genetics Shwachman-Diamond syndrome: ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  3. Shwachman-Diamond Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1756
    ... protein SBDS SBDS database SBDSbase: Mutation registry for Shwachman-Diamond syndrome SBDS SBDS SRP54 14q13 ​.2 Signal recognition particle 54 kDa protein SRP54 SRP54 Data are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  4. SBDS gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/sbds
    ... guanine nucleotide exchange factor SBDS_HUMAN Sdol1 SDS Shwachman-Bodian-Diamond syndrome SWDS YLR022c ... References Austin KM, Gupta ML Jr, Coats SA, Tulpule ...
  5. Bone Marrow Disease | Bone Marrow | MedlinePlus 
    https://medlineplus.gov/bonemarrowdiseases.html
    ... Primary myelofibrosis: MedlinePlus Genetics (National Library of Medicine) ... (National Institutes of Health) Journal Articles References and abstracts from MEDLINE/PubMed (National Library of ...
  6. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... name><other_name >SDS</other_name><other_name >Shwachman syndrome</other_name><other_name >Shwachman-Bodian syndrome</other_name><other_name >Shwachman-Bodian-Diamond syndrome</ ...
  7. Familial Monosomy 7 Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK45015
    ... hemoglobinuria (PNH) (OMIM 300818 ) Dyskeratosis congenita Fanconi anemia Shwachman-Diamond syndrome Management Evaluations Following Initial Diagnosis Urgent referral to ...
  8. Stool Elastase: MedlinePlus Medical Test 
    https://medlineplus.gov/lab-tests/stool-elastase
    ... the digestive system Certain genetic disorders , such as Shwachman-Diamond syndrome in children Other names: pancreatic elastase, fecal pancreatic ... MD): U.S. Department of Health and Human Services; Shwachman-Diamond syndrome; [updated 2021 Nov 8; cited 2022 Dec 14]; [ ...
  9. Pancreatitis Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK190101
    ... PCCA PCCB AR Progressive encephalopathy Metabolic crises Cardiomyopathy Shwachman-Diamond syndrome DNAJC21 EFL1 SBDS SRP54 AR (AD) Exocrine pancreatic ...
  10. Chediak-Higashi Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK5188
    ... E, Mele C, Remuzzi G. GeneReviews®. 1993 Review Shwachman-Diamond Syndrome [GeneReviews ® . 1993] Review Shwachman-Diamond Syndrome Nelson A, Myers K. GeneReviews®. 1993 See reviews... ...
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