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  1. Familial Hyperinsulinism - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1375
    ... severe neonatal onset to childhood onset with mild symptoms. Neonatal-onset disease manifests within hours to days after birth. In the newborn period, presenting symptoms may be nonspecific, including seizures, hypotonia, poor feeding, ...
  2. Alpha-1 Antitrypsin Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1519
    ... in the differential diagnosis of AATD-related liver disease. The differential diagnosis of neonatal cholestasis also includes multiple metabolic diseases and other ...
  3. NLM Digital Collections - AIDS Tracer M, 11/1/1983-12/19/1983 
    https://resource.nlm.nih.gov/101637321X11
    ... Causes of Reduced Resistance Age under 28 days (neonatal) at diagnosis. Diseases Possibly Attributable Toxoplasmosis, cytomegalovirus, or herpes simplex virus ...
  4. Ceruloplasmin Test: MedlinePlus Medical Test 
    https://medlineplus.gov/lab-tests/ceruloplasmin-test
    ... SC, Donsante A, Liew CJ, Sato S, Patronas N. Neonatal diagnosis and treatment of Menkes Disease. N Engl J Med [Internet]. 2008 Feb 7 [ ...
  5. Menkes syndrome: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/menkes-syndrome
    ... SC, Donsante A, Liew CJ, Sato S, Patronas N. Neonatal diagnosis and treatment of Menkes disease. N Engl J Med. 2008 Feb 7;358( ...
  6. Zellweger Spectrum Disorder - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1448
    ... window Zellweger Spectrum Disorder: Included Phenotypes Zellweger syndrome Neonatal adrenoleukodystrophy Infantile Refsum disease For synonyms and outdated names see Nomenclature . Diagnosis Suggestive Findings Zellweger spectrum disorder (ZSD) should be ...
  7. KCNQ2-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK32534
    ... genetic causes of these phenotypes see Differential Diagnosis . Diagnosis KCNQ2 -related disorders represent a continuum of overlapping neonatal epileptic phenotypes ranging from KCNQ2 -related benign familial ...
  8. Multiple Acyl-CoA Dehydrogenase Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK558236
    ... that is associated with congenital anomalies. Table 3. Disorders with Neonatal Onset to Consider in the Differential Diagnosis of Multiple Acyl-CoA Dehydrogenase Deficiency View in ...
  9. Canavan disease 
    https://medlineplus.gov/ency/article/001586.htm
    ... break down. There are two forms of the disease: Neonatal (infantile) -- This is the most common form. Symptoms are severe. Babies seem to be normal the ... problems are less severe than those of the neonatal form. In some cases, the symptoms are so mild that they go undiagnosed as Canavan disease.
  10. NKX2-1-Related Disorders - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK185066
    ... genetic causes of these phenotypes see Differential Diagnosis . Diagnosis NKX2-1 -related disorders include: benign hereditary chorea (BHC); and choreoathetosis, congenital hypothyroidism, and neonatal respiratory distress (also known as brain-lung-thyroid ...
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