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186 results
  1. Galactosemia 
    https://medlineplus.gov/ency/article/000366.htm
    ... phosphate epimerase deficiency; GALT; GALK; GALE; Epimerase deficiency galactosemia; GALE deficiency; Galactosemia type III; UDP-galactose-4; Duarte variant
  2. Classic Galactosemia and Clinical Variant Galactosemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1518
    ... term GeneReviews Advanced Search Help < Prev Next > Classic Galactosemia and Clinical Variant Galactosemia Synonyms: Galactose-1-Phosphate Uridylyltranserase Deficiency, GALT Deficiency ...
  3. Epimerase Deficiency Galactosemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK51671
    ... GeneReviews Advanced Search Help < Prev Next > Epimerase Deficiency Galactosemia Synonyms: Galactosemia Type III, GALE Deficiency, UDP-Galactose- ... least in the neonatal period. Generalized Epimerase Deficiency Galactosemia Generalized epimerase deficiency galactosemia is rare, with only ...
  4. Galactosemia Tests: MedlinePlus Medical Test 
    https://medlineplus.gov/lab-tests/galactosemia-tests
    ... only on official, secure websites. What is a galactosemia test? A galactosemia test is a blood test ... GALE deficiency. Why does my baby need a galactosemia test? Newborns in the United States are required ...
  5. Duarte Variant Galactosemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK258640
    ... GeneReviews Advanced Search Help < Prev Next > Duarte Variant Galactosemia Synonym: Duarte Galactosemia Judith L Fridovich-Keil , PhD, ... For information on selection criteria, click here . Duarte Galactosemia www.duartegalactosemia.org Medical Home Portal Galactosemia Newborn ...
  6. Galactosemia: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/condition/galactosemia
    ... galactosemia. Learn more about the genes associated with Galactosemia GALE GALK1 GALT Inheritance This condition is inherited ...
  7. Galactose-1-phosphate uridyltransferase blood test 
    https://medlineplus.gov/ency/article/003636.htm
    Galactosemia screen; GALT; Gal-1-PUT ... This is a screening test for galactosemia. In normal diets, most galactose comes from the breakdown ( metabolism ) of lactose, which is found in milk and dairy products. One out ...
  8. Galactosemia (image) 
    https://medlineplus.gov/ency/imagepages/17187.htm
    An infant with galactosemia is unable to use (metabolize) the simple sugar galactose, which reaches high levels in the body, causing damage to ... and various other body systems. An infant with galactosemia may develop jaundice, vomiting, lethargy, irritability and convulsions.
  9. GALT gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/galt
    ... producing energy. Health Conditions Related to Genetic Changes Galactosemia More than 300 mutations in the GALT gene ... identified in people with the classic form of galactosemia, a condition that causes life-threatening signs and ...
  10. GALE gene: MedlinePlus Genetics 
    https://medlineplus.gov/genetics/gene/gale
    ... producing energy. Health Conditions Related to Genetic Changes Galactosemia More than 20 mutations in the GALE gene ... been identified in people with a form of galactosemia known as type III or galactose epimerase deficiency. ...
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