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177 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. 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 ...
  7. 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.
  8. xmlghr-summaries.xml 
    https://medlineplus.gov/download/ghr-summaries.xml
    ... published></health-condition-summary><health-condition-summary ><name >Galactosemia</name><ghr-page >https://medlineplus.gov/genetics/condition/ ...
  9. 2019New_Mesh_Tree_Hierarchy.txt 
    https://www.nlm.nih.gov/.../download/2019New_Mesh_Tree_Hierarchy.txt
    ... Angiopathy, Familial C10.228.140.163.100.320 Galactosemias C10.228.140.163.100.355 Hartnup Disease ... Amyloid Angiopathy, Familial C16.320.565.189.320 Galactosemias C16.320.565.189.355 Hartnup Disease C16. ...
  10. pdf2016MeshTree.pdf 
    https://www.nlm.nih.gov/mesh/2016/download/2016MeshTree.pdf
    ... Angiopathy, Familial C10.228.140.163.100.320...........................................Galactosemias C10.228.140.163.100.355...........................................Hartnup Disease ...
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