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92 results
  1. ... reference >Cerebral genético, Trastorno</see-reference><see-reference >Galactosemia</see-reference><site ><information-category >Asuntos específicos</information-category><information- ...
  2. ... 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. 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. ... 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. ... 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. ... 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. ... X-chromosome and recover gene more easily than galactosemia. Relatively ... these notes. REFERENCES GENETIC ENGINEERING June 1975 1) Isolation of lac ...
  8. ... 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. ...
  9. ... topic><topic ><url >https://medlineplus.gov/genetics/condition/galactosemia</url><title >Galactosemia</title><other_names ><other_name >Classic galactosemia</other_ ...
  10. ... acidemia FBP1 Fructose-1,6-bisphosphatase deficiency GALT Galactosemia (See Classic Galactosemia & Clinical Variant Galactosemia .) AR SERPINA1 Alpha-1 antitrypsin ...
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