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Newborn Screening Ontarios Expanded Screening Program：新生儿筛查安大略扩展的筛选程序
Resources Newborn Screening Ontario Website: http://www.newbornscreening.on.ca/bins/index.asp March of Dimes: Genetests: National Newborn Screening Genetics Resource Center: Pediatrix – US private lab offering NBS Resources American College of Medical Genetics – fact sheets /resources/policies/NBS/NBS-sections.htm American Academy of Pediatrics – fact sheets /cgi/content/abstract/pediatrics;118/3/e934 American Academy of Family Physicians – Information resources /afp/2008/0401/p987.html Ontario Medical Association – Important changes to NBS in Ontario /Health/newborn/06newborn.asp * Slide 66: The Genetics Education Project Logo * Slide 29: Expanded NBS 29 Conditions Sickle cell disease (Hb SS), variants include Hemoglobin SC disease (Hb SC) Sickle-β thalassemia (Hb S/β-thal) Variants may have similar symptoms and treatments as classical sickle cell disease. * Slide 31: Expanded NBS 29 Conditions Slide 53: Resources Watson MS, Mann MY, Lloyd-Puryear MA, Rinaldo P, Newborn Screening: Toward a Uniform Screening Panel and System. Genet Med 2006:8(5, Supplement) American Academy of Pediatrics, Newborn Screening Fact Sheets Kaye CL and the Committee on Genetics. Newborn screening fact sheets. Pediatrics 2006; 118:e934-e963. Clarke JTR, Geraghty MT, Hudak AP, Chakraborty P. Important changes to newborn screening in Ontario. Ontario Medical Review. April 1, 2006. Waisbren SE. Expanded newborn screening: information and resources for the family physician. Am Fam Physician. 2008 Apr 1;77(7):987-94. Review. * Slide 23: Fatty Acid Oxidation Disorders For a review of Fatty Acid Oxidation disorders see: (19) Angelini C, Federico A, Reichmann H, Lombes, Chinnery P, Turnbull D. Task force guidelines handbook: EFNS guidelines on diagnosis and management of fatty acid mitochondrial disorders. Eur J Neurol. 2006; 13:923-929. (20) Saudubray JM, Martin D, deLonlay P, Touati G, Poggi-Travert F, bonnet D, Jouvet P, Boutron M, Slama A, Vianey-saban C, Bonnefont JP, Rab
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