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135 results

  1. GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1116
    ... July 14, 2003; Last Revision: March 23, 2023. Barth Syndrome Carlos Ferreira, Germaine Pierre, Reid Thompson, and Hilary ...
  2. Primary Mitochondrial Disorders Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1224
    ... of the mt membrane Coenzyme Q 10 deficiency Barth syndrome Cardiomyopathy & lactic acidosis (mitochondrial phosphate carrier deficiency) mt = ... disorders) it may be possible to reach a diagnosis with targeted analysis ... clinical syndromes, many tertiary centers will perform biochemical tests on ...
  3. Multiple Endocrine Neoplasia Type 1 - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1538
    ... Jensen RT (2005) Duodenal neuroendocrine tumors: classification, functional syndromes, diagnosis and medical treatment. Best Pract Res Clin Gastroenterol ...
  4. Excluded Studies - Diagnosis and Management of Infantile Hemangioma - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK344066
    ... 6502082 ] 156. McIntosh C, Dehkharghani F. The neurocutaneous syndromes: diagnosis and management for the primary care pediatrician. J ... T, et al. Successful treatment of Kasabach-Merritt syndrome with vincristine and diagnosis of the hemangioma using three-dimensional imaging. Pediatr ...
  5. Newborn Screening 
    https://medlineplus.gov/newbornscreening.html
    ... Argininosuccinic aciduria: MedlinePlus Genetics (National Library of Medicine) Barth syndrome: MedlinePlus Genetics (National Library of Medicine) Beta thalassemia: ...
  6. Nuclear Gene-Encoded Leigh Syndrome Spectrum Overview - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK320989
    ... 3. Differential Diagnosis of Nuclear Gene-Encoded Leigh Syndrome Spectrum The differential diagnosis of genetic causes of nuclear gene -encoded Leigh ... Syndrome Spectrum Causes of Nuclear Gene-Encoded Leigh Syndrome ... Differential Diagnosis of Nuclear Gene-Encoded Leigh Syndrome Spectrum Evaluation ...
  7. Mucopolysaccharidosis Type II - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1274
    ... hearing loss, dysostosis multiplex, spinal stenosis, carpal tunnel syndrome, and hepatosplenomegaly. Diagnosis/testing. The diagnosis of MPS II is established ...
  8. SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria - GeneReviews® ... 
    https://www.ncbi.nlm.nih.gov/books/NBK425223
    ... SUCLA2 , and other genes related to mtDNA depletion syndromes (see Differential Diagnosis ) may also be considered. Note: (1) The genes ... be associated with pathogenic variants in SUCLG1 . Differential Diagnosis SUCLG1 -related mtDNA depletion syndrome needs to be differentiated from other mtDNA depletion ...
  9. DYRK1A Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK333438
    ... member, prenatal and preimplantation genetic testing are possible. Diagnosis Suggestive Findings DYRK1A syndrome should be considered in individuals with mild-to- ...
  10. Aicardi-Goutières Syndrome - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1475
    ... al 2014b ]. Leukoencephalopathy, brain calcifications, and cysts (Labrune syndrome) (OMIM 614561 ) Management Evaluations Following Initial Diagnosis To establish the extent of disease and needs ...
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