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383 results
  1. Barth syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/barth-syndrome
    ... in life. The age at which individuals with Barth syndrome display symptoms or are diagnosed varies greatly. The severity of ... Dysfunctional mitochondria likely lead to other signs and symptoms of Barth syndrome. Learn more about the gene associated with Barth ...
  2. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... in life. The age at which individuals with Barth syndrome display symptoms or are diagnosed varies greatly. The severity of signs and symptoms among affected individuals is also highly variable.</html:p><html:p >Males with Barth syndrome have a reduced life expectancy. Many affected children ...
  3. Barth Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK247162
    ... and have normal biochemical studies. Diagnosis/testing. The diagnosis of Barth syndrome is established in a male proband with either ... formerly TAZ ) identified by molecular genetic testing. The diagnosis of Barth syndrome is usually established in a female proband with ...
  4. TAFAZZIN gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/tafazzin
    ... Dysfunctional mitochondria likely lead to other signs and symptoms of Barth syndrome. More About This Health Condition Familial dilated cardiomyopathy ...
  5. Mitochondrial Diseases 
    https://medlineplus.gov/mitochondrialdiseases.html
    ... for these diseases, but treatments may help with symptoms and slow down the disease. They may include physical therapy, vitamins and supplements, special diets, and medicines.
  6. Excluded Studies - Pharmacologic and Nonpharmacologic Treatments for Posttraumatic Stress Disorder: Groundwork for a ... 
    https://www.ncbi.nlm.nih.gov/books/NBK541632
    ... medication treatment are related to changes in PTSD symptoms over time in veterans ... Syndrome: the MI-SPRINT randomized controlled trial. Psychother Psychosom. ...
  7. Dilated cardiomyopathy with ataxia syndrome 
    https://medlineplus.gov/...lated-cardiomyopathy-with-ataxia-syndrome
    ... chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. J Med Genet. 2006 May;43( ... features of a novel autosomal recessive dilated cardiomyopathic syndrome due to ... SB, Duran M, Anikster Y, Barth PG, Sperl W, Zschocke J, Morava E, Wevers ...
  8. KRAS gene 
    https://medlineplus.gov/genetics/gene/kras
    ... AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010 Oct;126(4): ... functional analysis in human Ras/MAP kinase genetic syndromes. Methods Mol Biol. ... M, Lehmann K, Schulz AL, Barth H, Hansmann D, Koenig R, Korinthenberg R, Kreiss- ...
  9. Aicardi-Goutières syndrome 
    https://medlineplus.gov/.../condition/aicardi-goutieres-syndrome
    ... in encephalopathy, skin lesions, and other signs and symptoms of Aicardi-Goutières syndrome. Variants in other genes, including the SAMHD1, IFIH1, ... reactions that lead to the other signs and symptoms of Aicardi-Goutières syndrome. Variants in the TREX1, RNASEH2A, and RNASEH2C genes ...
  10. Lateral meningocele syndrome 
    https://medlineplus.gov/.../condition/lateral-meningocele-syndrome
    ... on PubMed Chen KM, Bird L, Barnes P, Barth R, Hudgins L. Lateral meningocele syndrome: vertical transmission and expansion of the phenotype. Am ...
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