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64 results
  1. Adenosine Deaminase 2 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK544951
    ... in the serum of individuals with HIV and chronic inflammatory diseases, as well as in tuberculous pleural effusions. ADA2 ...
  2. DICER1 Tumor Predisposition - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK196157
    ... root enlargement SERPINA1 Alpha-1 antitrypsin deficiency AR Chronic obstructive pulmonary disease (emphysema &/or chronic bronchitis), primarily in adults Incidence ...
  3. Granuloma annulare 
    https://medlineplus.gov/ency/article/000833.htm
    Granuloma annulare (GA) is a long-term ( chronic ) skin disease consisting of a rash with reddish bumps arranged in a circle or ring. ... Dinulos JGH. Cutaneous manifestations of internal disease. In: Dinulos JGH, ... Weedon's Skin Pathology. 5th ed. Philadelphia, PA: Elsevier; 2021:chap 8.
  4. Emerging Approaches to Diagnosis and Treatment of Non–Muscle-Invasive Bladder Cancer - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK330472
    ... ethnicity, performance status, or medical comorbidities such as chronic kidney disease? Discussion Key Findings and Strength of Evidence Findings ...
  5. Rothmund-Thomson Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1237
    ... w/↓ subcutaneous fat Recurrent infections (otitis media & pneumonia) Chronic pulmonary disease Diabetes mellitus Werner syndrome WRN AR Initial findings ( ...
  6. ASAH1-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK488189
    ... Ceramides in a patient with lipogranulomatosis (Farber's disease) with chronic course. Scand J Clin Lab Invest. 1971; 27 :393–405. [ PubMed : 5109101 ] Sathe S, Pearson T. ... of skin diseases by electron microscopy. "Farber bodies" in disseminated lipogranulomatosis ( ...
  7. Excluded studies - Food Allergy in Children and Young People - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK82182
    ... Staiano A. Prevalence of atopy in children with chronic constipation. Archives of Disease in Childhood. 2008; 93 (12):1044–1047. Ref ...
  8. Familial Mediterranean Fever - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1227
    ... in these individuals [ Tchernitchko et al 2005 ]. Autoinflammatory diseases Cryopyrin-associated periodic syndromes (CAPS) include: chronic infantile neurologic cutaneous and articular syndrome (OMIM 607115 ); ...
  9. Cerebrotendinous Xanthomatosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1409
    ... 12555943 ] Cruysberg JR. Cerebrotendinous xanthomatosis: juvenile cataract and chronic diarrhea before the onset of neurologic disease. Arch Neurol. 2002; 59 :1975. [ PubMed : 12470193 ] Cruysberg ...
  10. Junctional Epidermolysis Bullosa - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1125
    ... social services and psychological counseling; appropriate management of chronic pain; regular dental care; treatment of urologic and renal disease using standard treatments. Prevention of secondary complications: Attention ...
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