目前新生兒篩檢的11項疾病:
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1.苯酮尿症(Phenylketonuria;PKU) 2.先天性甲狀腺低能症(Congenital Hypothyroidism;CHT) 3.高胱胺酸尿症(Homocystinuria) 4.半乳糖血症(Galactosemia;GAL) 5.葡萄糖六磷酸鹽去氫酶缺乏症 (Glucose-6-Phosphate Dehydrogenase Deficiency;G6PD Deficiency) 6.先天性腎上腺增生症(Congenital Adrenal Hyperplasia;CAH) 7.楓漿尿症(Maple Syrup Urine Disease;MSUD) 8.中鏈醯輔酶A去氫氫酵素缺乏症(Medium Chain Acyl-CoA Dehydrogenase Deficiency;MCAD) 9.戊二酸血症第一型(Glutaric Acidemia Type I;GAI) 10.異戊酸血症(Isovaleric Acidemia;IVA) 11.甲基丙二酸血症(Methylmalonic Acidemia;MMA) |
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