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343 results

  1. C3 Glomerulopathy - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1425
    ... recommended for relatives being considered as kidney donors. Prevention of Primary Manifestations Most treatments for C3G are ... homozygous factor h deficiencies associated with hemolytic uremic syndrome or ... YB, Jones CJ, Short CD, Roberts IS, Bonshek RE. Oligosaccharide composition is similar in ...
  2. MUTYH Polyposis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK107219
    ... aspiration that is appropriate [ LaGuardia et al 2011 ]. Prevention of Primary Manifestations For many individuals with MAP, ... CRC. Colonoscopy is therefore used for surveillance and prevention of CRC. To reduce the risk for duodenal/ ...
  3. CYLD Cutaneous Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK555820
    ... Mohs may be best reserved for sporadic cases. Prevention of Primary Manifestations The role of UV light ... PubMed : 21552290 ] Rajan N, Langtry JAA, Ashworth A, Roberts C, ... cylindromatosis and brooke-spiegler syndrome: a review of current therapeutic approaches and the ...
  4. Susceptibility to Infection-Induced Acute Encephalopathy 3 – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY - ... 
    https://www.ncbi.nlm.nih.gov/books/NBK258641
    ... to terminate an ANE episode before damage occurs. Prevention of Primary Manifestations Routine vaccinations and yearly influenza ... Lunn M, Mckee D, Peake D, Pysden K, Roberts M, Carrol ED, Lim M, Avula S, Solomon T, Kneen R. ... demyelinating syndromes: A critical review. J Autoimmun. 2014; 48-49 : ...
  5. Au-Kline Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK540283
    ... behavior can be addressed by a pediatric psychiatrist. Prevention of Secondary Complications Anesthesia consultation is suggested prior ... Shashi V, Sanchez-Lara PA, Graham JM Jr, Roberts A, Chorin O, Evrony GD, ... spectrum of Au-Kline syndrome. Am J Hum Genet. 2022;109:1867-84. [ ...
  6. SCN1A Seizure Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1318
    ... Finding respite care Contacting an internet support group Prevention of Secondary Complications Individuals experiencing atonic seizures or ... Pober BR, Gibson LH, Willis CR, McGrath J, Roberts DJ, Yang-Feng TL. Deletion of chromosome 2q24-q31 causes characteristic digital ... [ PubMed : 22719002 ] Caraballo ...
  7. Xq28 Duplication Syndrome, Int22h1/Int22h2 Mediated - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK349624
    ... PubMed Review Noonan Syndrome. [GeneReviews(®). 1993] Review Noonan Syndrome. Roberts AE. GeneReviews(®). 1993 Review PTS-Related Tetrahydrobiopterin Deficiency ( ...
  8. Cytochrome P450 Oxidoreductase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1419
    ... elbow synostosis develop fine and gross motor skills. Prevention of Secondary Complications Supplementation with appropriate steroid hormones ...
  9. Diabetes Mellitus, 6q24-Related Transient Neonatal - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1534
    ... enough to require treatment has not been reported. Prevention of Secondary Complications The main concerns are related ... JM. Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings. ... G, Labit H, Marquis E, Bellanné-Chantelot C, Robert JJ. Genetic and epigenetic defects at the 6q24 ...
  10. Nonsyndromic Malignant Hyperthermia Susceptibility - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1146
    ... mandates referral to a neurologist for further investigation. Prevention of Primary Manifestations Preventive measures for individuals known ... Author History Leslie G Biesecker, MD (2025-present) Robert T Dirksen, PhD ... of neuroleptic malignant syndrome. Forensic Sci Int. 2010;194:77–9. [ PubMed : ...
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