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135 results

  1. xmlmplus_topics_2025-08-09.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-08-09.xml
    ... site><site ><information-category >Specifics</information-category><organization >Barth Syndrome Foundation</organization></site><site ><information-category >Genetics</information- ...
  2. Noonan Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1124
    ... L, Gelb BD. Congenital heart defects in Noonan syndrome: diagnosis, management, and treatment. Am J Med Genet C ... AE, Robinson W, Takemoto CM, Noonan JA. Noonan syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2010;126:746-59. [ ...
  3. SERAC1 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK195853
    ... found in MEGD[H]EL syndrome) TAFAZZIN ( TAZ ) Barth syndrome XL Present * In males, cardiomyopathy (left ventricular noncompaction), ... RA. 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. ... Sperl W. A guideline for the diagnosis of pediatric mitochondrial disease: the value of muscle ...
  4. Excluded Studies - Treatments for Ankyloglossia and Ankyloglossia With Concomitant Lip-Tie - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK299121
    ... 60. X-1. [ PubMed : 22140667 ] 1256. Burning mouth syndrome diagnosis. Dental Abstracts. 2012; 57 (6):313–4. PMID: ... V, Stewart JM Jr., et al. Ankyloglossum superius syndrome: diagnosis and surgical management. J Craniofac Surg. 2007 Sep; ...
  5. WFS1 Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK4144
    ... free article : PMC7497289 ] [ PubMed : 32596782 ] Urano F. Wolfram syndrome: diagnosis, management, and treatment. Curr Diab Rep. 2016;16: ...
  6. ELANE-Related Neutropenia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1533
    ... hypoplasia Chediak-Higashi syndrome Griscelli syndrome (OMIM PS214450 ) Barth syndrome Wiskott-Aldrich syndrome (See WAS -Related Disorders .) Dyskeratosis congenita Myelokathexis (WHIM syndrome; OMIM 193670 ) Classic G6PC3 deficiency ... Following Initial Diagnosis To establish the extent of disease in an ...
  7. List of Excluded Articles - Diagnostic Errors in the Emergency Department: A Systematic Review - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK588119
    ... et al. Differences in mortality in acute coronary syndrome symptom clusters. American heart journal. 2010 Mar;159(3): ... Ojeda F, et al. Relations of Sex to Diagnosis and Outcomes in Acute Coronary Syndrome. Journal of the American Heart Association. 2018 Mar ...
  8. CLPB Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK396257
    ... on MRI). TAFAZZIN (formerly TAZ ) TAZ defect (See Barth syndrome .) XL In affected males: growth delay in infancy, ...
  9. AARS2-Related Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK608563
    ... spinal muscular atrophy Less severe manifestations TAFAZZIN ( TAZ ) Barth syndrome XL Infantile-onset CM, often fatal in childhood ... in an autosomal dominant manner. 3. Aicardi-Goutières syndrome is most ... diagnosis of AARS2 -related neurodegeneration with or without leukoencephalopathy ...
  10. Cardiomyopathy | Enlarged Heart | MedlinePlus 
    https://medlineplus.gov/cardiomyopathy.html
    ... ventricular cardiomyopathy: MedlinePlus Genetics (National Library of Medicine) Barth syndrome: MedlinePlus Genetics (National Library of Medicine) Danon disease: ...
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