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280 results
  1. Barth Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK247162
    ... lasting five beats during an echocardiogram, correlating with symptoms. Neutropenia and infections. In the Barth Syndrome Registry study, ... autosomal dominant form of congenital neutropenia with milder neutropenia and less severe symptoms. ... clinical management recommendations for Barth syndrome ...
  2. WAS-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1178
    ... for bleeding decrease spontaneously with age. X-Linked Neutropenia (XLN) The differential diagnosis for XLN is broad and includes autoimmune neutropenia ...
  3. Shwachman-Diamond Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1756
    ... related neutropenia includes cyclic neutropenia and severe congenital neutropenia. Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
  4. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... a shortage of infection-fighting white blood cells (neutropenia). Signs and symptoms of the condition develop by early childhood, and ... other disorders: X-linked thrombocytopenia and severe congenital ... signs and symptoms and the same genetic cause.</html:p></html></ ...
  5. 22q11.2 Deletion Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1523
    ... 50%) Growth hormone deficiency Hypothyroidism Cytopenias (hemolytic anemia, neutropenia, thrombocytopenia) Establishing the Diagnosis The diagnosis of 22q11.2DS is established in ...
  6. CLPB deficiency: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/clpb-deficiency
    ... a shortage of infection-fighting white blood cells (neutropenia). Signs and symptoms of the condition develop by early childhood, and ... but they typically do not show signs and symptoms of the condition. Other Names for ... aciduria-cataract-neurologic involvement-neutropenia syndrome ...
  7. Subsequent Treatment: guideline chapter seven - Neutropenic Sepsis: Prevention and Management of Neutropenic Sepsis in .... 
    https://www.ncbi.nlm.nih.gov/books/NBK373665
    ... of infection in patients with cancer and/or neutropenia depends on the primary diagnosis and the type, duration and intensity of the ... of infection in patients with cancer and/or neutropenia depends on the primary diagnosis and the type, duration and intensity of the ...
  8. CLPB Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK396257
    ... is no neurologic involvement, intellect is normal, and neutropenia is mild and intermittent. Life expectancy is normal. Diagnosis/testing. The diagnosis of CLPB deficiency is established ...
  9. Wiskott-Aldrich syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/wiskott-aldrich-syndrome
    ... other disorders: X-linked thrombocytopenia and severe congenital neutropenia . These conditions have overlapping signs and symptoms and the same genetic cause. Frequency The estimated ...
  10. Hepatitis C Treatment: Inclusion Criteria by Key Question - Treatment for Hepatitis C Virus Infection in Adults - NCBI .... 
    https://www.ncbi.nlm.nih.gov/books/NBK115342
    ... antiviral treatments (including withdrawals due to adverse events, neutropenia, anemia, psychological adverse events, flu-like symptoms, rash) Intermediate outcomes Sustained virological response Improvement in ...
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