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19 results
  1. Classic Galactosemia and Clinical Variant Galactosemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1518
    ... ten days of life, the signs of classic galactosemia resolve quickly and prognosis for prevention of liver failure, E coli sepsis, and neonatal ... T, Klapper H, Lai K, Elsas LJ (2006) Prevention of a molecular misdiagnosis in galactosemia. Genet Med 8:178-82 [ PubMed : 16540753 ] Batey ...
  2. Epimerase Deficiency Galactosemia - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK51671
    ... to thrive, mature cataracts, and sensorineural hearing loss. Prevention of primary manifestations: In generalized epimerase deficiency galactosemia, restriction of dietary galactose/lactose appears to correct ...
  3. 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/ ...
  4. 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 ...
  5. 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 ...
  6. Cystinosis - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1400
    ... renal Fanconi syndrome.) Inheritance is X-linked. Classic galactosemia is a disorder of galactose metabolism that can ... 1-phosphate uridyltransferase (GALT). The diagnosis of classic galactosemia is established by detection of elevated erythrocyte galactose- ...
  7. Recommendations for Adults - The Guide to Clinical Preventive Services 2012 - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK115121
    ... example for mothers with HIV and infants with galactosemia, breastfeeding is not recommended. Interventions to promote breastfeeding ... http://www ​.thecommunityguide.org . FOLIC ACID FOR THE PREVENTION OF NEURAL TUBE DEFECTS CLINICAL SUMMARY OF U. ...
  8. Clinical Summaries of Recommendations for Adults - The Guide to Clinical Preventive Services 2014 - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK235852
    ... example for mothers with HIV and infants with galactosemia, breastfeeding is not recommended. Interventions to promote breastfeeding ... in Older Adults View in own window Title Prevention of Falls in Community-Dwelling Older Adults Population ...
  9. Excluded Studies - Cerebral palsy in under 25s: assessment and management - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK533212
    ... and language developmental issues among children with Duarte galactosemia, Genetics in Medicine, 11, 874-9, 2009 Population: children with Duarte galactosemia already diagnosed. Schaefer, G. B., Bodensteiner, J. B., ...
  10. Tyrosinemia Type I - GeneReviews® - NCBI Bookshelf 
    https://www.ncbi.nlm.nih.gov/books/NBK1515
    ... of methionine metabolism Other liver disease Liver disease Galactosemia Hereditary fructose intolerance Fructose 1, 6 biphosphatase deficiency ( ... the plasma and urine [ Bartlett et al 2013 ]. Prevention of Primary Manifestations Treatment with nitisinone (Orfadin ® ) should ...
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