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106 results
  1. Galactosemia 
    https://medlineplus.gov/ency/article/000366.htm
    ... your health care provider if: Your infant has galactosemia symptoms You have a family history of galactosemia and ... decisions about pregnancy and prenatal testing. Once the diagnosis of galactosemia is made, genetic counseling is recommended for other ...
  2. Galactosemia: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/galactosemia
    ... epimerase deficiency) cause different patterns of signs and symptoms. Galactosemia type II causes fewer medical problems than the ... experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe and ...
  3. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... epimerase deficiency) cause different patterns of signs and symptoms. Galactosemia type II causes fewer medical problems than the ... experience few long-term complications. The signs and symptoms of galactosemia type III vary from mild to severe and ...
  4. Galactosemia Tests: MedlinePlus Medical Test 
    https://medlineplus.gov/lab-tests/galactosemia-tests
    ... they were adopted from another country and have symptoms of galactosemia. These include: Vomiting Poor weight gain Refusal to ... Internet]. New York: About, Inc.; c2021. Signs and Symptoms of Galactosemia; 2019 Nov 29 [cited 2021 Apr 29]; [about ...
  5. NLM Digital Collections - The Surgeon General's Workshop on Maternal and Infant Health: Report 
    Publication: United States. Public Health Service. Office of the Surgeon General, 1981
    resource.nlm.nih.gov/101584932X539
    ... for genetically-determined diseases including PKU, hypothyroidism and galactosemia Diagnosis and treatment? or referral and followup of general ...
  6. NLM Digital Collections - The Surgeon General's Workshop on Maternal and Infant Health: Report (pages 26-55) 
    Publication: United States. Public Health Service. Office of the Surgeon General, 1981
    resource.nlm.nih.gov/101584932X542
    ... for genetically-determined diseases including PKU, hypothyroidism and galactosemia Diagnosis and treatment? or referral and followup of general ...
  7. Galactose-1-phosphate uridyltransferase blood test 
    https://medlineplus.gov/ency/article/003636.htm
    An abnormal result suggests galactosemia. Further tests must be done to confirm the diagnosis. If your child has galactosemia, a genetics specialist should be consulted promptly. The child should be put on a no- ...
  8. Hereditary fructose intolerance 
    https://medlineplus.gov/ency/article/000359.htm
    ... of fructose intolerance are similar to those of galactosemia (inability to use the sugar galactose). Later symptoms relate more to liver disease. Symptoms may include: ...
  9. GALT gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/galt
    ... identified in people with the classic form of galactosemia, a condition that causes life-threatening signs and symptoms beginning shortly after birth. Most of these mutations ...
  10. NLM Digital Collections - Memorandum from Joshua Lederberg [on mental retardation research] 
    Publication: Produced: [1962]
    resource.nlm.nih.gov/101584906X19452
    ... domestic plants. Our present techniques for the accurate diagnosis of galactosemia depend on basic studies on the metabolism of ...
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