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  1. xmlmplus_topics_2025-06-06.xml 
    https://medlineplus.gov/xml/mplus_topics_2025-06-06.xml
    ... reference >Cerebral genético, Trastorno</see-reference><see-reference >Galactosemia</see-reference><site ><information-category >Asuntos específicos</information-category><information- ...
  2. Classic Galactosemia and Clinical Variant Galactosemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1518
    ... Portal Galactosemia National Library of Medicine Genetics Home Reference Galactosemia The Galactosemia Foundation 350 Northern Boulevard Suite 324 - ... ED. Table A. Classic Galactosemia and Clinical Variant Galactosemia: Genes and ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...
  3. Newborn Screening 
    https://medlineplus.gov/newbornscreening.html
    Your newborn infant has screening tests before leaving the hospital. Get the facts about these tests and what you should expect. ... Your newborn infant has screening ...
  4. Galactosemia Tests: MedlinePlus Medical Test 
    https://medlineplus.gov/lab-tests/galactosemia-tests
    ... special diets for the rest of their lives. References Baby's First Test [Internet]. Expecting Health; c2024. Classic Galactosemia; [cited 2024 Jun 06]; [about 5 screens]. Available ...
  5. Duarte Variant Galactosemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK258640
    ... to the many families affected by Duarte variant galactosemia who participate in research studies. Revision History 25 June 2020 (AA) Revision: added GALM deficiency and associated references 23 May 2019 (ma) Comprehensive update posted live ...
  6. Epimerase Deficiency Galactosemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK51671
    ... from the National Institutes of Health and the Galactosemia Foundation. Revision History 4 March 2021 (ma) Comprehensive update ... Cited Alano A, Almashanu S, Chinsky JM, ...
  7. xmlTopicIndex.xml 
    https://medlineplus.gov/download/TopicIndex.xml
    ... topic><topic ><url >https://medlineplus.gov/genetics/condition/galactosemia</url><title >Galactosemia</title><other_names ><other_name >Classic galactosemia</other_ ...
  8. Hereditary Fructose Intolerance - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK333439
    ... acidemia FBP1 Fructose-1,6-bisphosphatase deficiency GALT Galactosemia (See Classic Galactosemia & Clinical Variant Galactosemia .) AR SERPINA1 Alpha-1 antitrypsin ...
  9. Citrin Deficiency - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1181
    ... test for: Citrullinemia and/or prolonged jaundice; or Galactosemia, hypermethionemia, tyrosinemia or hyperphenylalanemia, who on follow-up ... lactose-free therapeutic formulas (for those with secondary galactosemia) and/or medium-chain triglyceride (MCT)-enriched therapeutic ...
  10. Carbohydrate Metabolism Disorders 
    https://medlineplus.gov/carbohydratemetabolismdisorders.html
    ... Topic (National Library of Medicine) Also in Spanish Galactosemia (American Liver Foundation) Also in Spanish Glycogen Storage ... Medicine) Fucosidosis: MedlinePlus Genetics (National Library of Medicine) Galactosemia: MedlinePlus Genetics (National Library of Medicine) Galactosialidosis: MedlinePlus ...
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