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  1. Duarte Variant Galactosemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK258640
    ... reported for girls or women with Duarte variant galactosemia. Diagnosis/testing. Duarte variant galactosemia is diagnosed by a ... enzyme activity (see Classic Galactosemia and Clinical Variant Galactosemia ). Differential Diagnosis Most infants with Duarte variant galactosemia are diagnosed ...
  2. Classic Galactosemia and Clinical Variant Galactosemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1518
    ... International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. Available online . 2017. Accessed ... International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis. ...
  3. 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 ...
  4. Galactosemia Tests: MedlinePlus Medical Test 
    https://medlineplus.gov/lab-tests/galactosemia-tests
    ... adopted from another country and have symptoms of galactosemia. These symptoms can include: Vomiting Poor weight gain Refusal to ... Internet]. New York: About, Inc.; c2024. Signs and Symptoms of Galactosemia; 2023 Jan 25 [cited 2024 Jun 06]; [about ...
  5. 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 ...
  6. 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 ...
  7. Epimerase Deficiency Galactosemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK51671
    ... peripheral epimerase deficiency galactosemia from intermediate epimerase deficiency galactosemia (see Establishing the Diagnosis, Additional Testing ); furthermore, such tests may not be ...
  8. 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 ...
  9. 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 ...
  10. 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- ...
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