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135 results

  1. 3-methylglutaconyl-CoA hydratase deficiency 
    https://medlineplus.gov/...methylglutaconyl-coa-hydratase-deficiency
    ... RA. 3-Methylglutaconic aciduria type I redefined: a syndrome with late-onset leukoencephalopathy. Neurology. 2010 Sep 21;75(12):1079-83. doi: 10.1212/WNL.0b013e3181f39a8a. Citation on PubMed
  2. D-bifunctional protein deficiency 
    https://medlineplus.gov/.../d-bifunctional-protein-deficiency
    ... but they typically do not show signs and symptoms of the condition. ... Genetic Testing Registry: Bifunctional peroxisomal ...
  3. Costeff Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1473
    ... epilepsy & optic atrophy) TAFAZZIN ( TAZ ) XL TAFAZZIN defect ( Barth syndrome ) Cardiomyopathy; 5 skeletal myopathy; DD; growth restriction; neutropenia ... Wanders RJ. X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update. Am J Med Genet A. 2004; ...
  4. CUL3 gene 
    https://medlineplus.gov/genetics/gene/cul3
    ... Fung C, Morel C, Ellis JL, DiTroia S, Barth M, Bonneau D, Krapels I, Stegmann S, van ... E3 ligase complex mutated in Gordon's hypertension syndrome interacts with and ubiquitylates WNK isoforms: disease-causing ...
  5. Dystrophinopathies - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1119
    ... forms are less common [ Watkins et al 2011 ]. Barth syndrome , an X-linked disorder caused by mutation of ... Disease. Taylor MRG, Adler ED. GeneReviews(®). 1993 Review Barth Syndrome. [GeneReviews(®). 1993] Review Barth Syndrome. Ferreira C, Pierre ...
  6. G6PC3 Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK285321
    ... congenital neutropenia type 4) Severe G6PC3 deficiency (Dursun syndrome) Diagnosis Consensus diagnostic criteria for G6PC3 deficiency have not ... Neutropenia May be Part of a Multisystem Disorder Barth syndrome Cartilage-hair hypoplasia Charcot-Marie-Tooth disease caused ...
  7. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/barth-syndrome</url><title >Barth syndrome</title><other_names ><other_name >3 methylglutaconic aciduria, ...
  8. Danon Disease - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK554742
    ... Gene Locus Links Similar articles in PubMed Review Barth Syndrome. [GeneReviews(®). 1993] Review Barth Syndrome. Ferreira C, Pierre G, Thompson R, Vernon H. ...
  9. Chondrodysplasia Punctata 1, X-Linked - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1544
    ... Linked. Kumble S, Savarirayan R. GeneReviews(®). 1993 Review Barth Syndrome. [GeneReviews(®). 1993] Review Barth Syndrome. Ferreira C, Pierre G, Thompson R, Vernon H. ...
  10. Dilated Cardiomyopathy Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1309
    ... 1 Gene(s) MOI Other Clinical Features Comments Barth syndrome TAFAZZIN ( TAZ ) XL Neutropenia Muscle weakness Growth delay ... a specific syndrome associated with DCM (e.g., Barth syndrome or Duchenne muscular dystrophy ), counseling for that condition ...
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