- ºû«ù즳fଧ¿¯g ( PKU)¡B°ª¯ÖÓi»Ä§¿¯g ( HCU )¡B¥b¨Å¿}¦å¯g( GAL )¡B¥ý¤Ñ©Ê¥Òª¬¸¢§C¯à¯g ( CHT) ¤Î¸²µå¿}¤»ÁC»ÄÆQ¥h²B酶¯Ê¥F¯g
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I. «ØÄ³ºû«ù±`³W¿zÀˤ§¶µ¥Ø
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Congenital Hypothyroidism (CHT)
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Galactosemia (GAL)
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G6PD Deficiency (G6PD)
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Homocystinuria (HCU)
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Phenylketonuria (PKU)
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II. «ØÄ³¦Ò¼{¯Ç¤J±`³W¿zÀˤ§·s¼W¶µ¥Ø |
A1. Congenital Adrenal Hyperplasia (CAH) <¿zÀ˧@·~ì«h>
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A2. Maple Syrup Urine Disease (MSUD) <¿zÀ˧@·~ì«h>
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B3. Medium Chain Acyl- CoA Dehydrogenase Deficiency (MCAD) <¿zÀ˧@·~ì«h>
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C3. Glutaric Acidemia Type I (GA I) <¿zÀ˧@·~ì«h>
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C4. Isovaleric Acidemia (IVA) <¿zÀ˧@·~ì«h>
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C5. Methylmalonic Acidemia (MMA) <¿zÀ˧@·~ì«h>
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III. «ØÄ³¶i¦æ¥ýÁͩʥþ±¿zÀˤ§¶µ¥Ø |
B1. Biotinidase Deficiency (BD) <¿zÀ˧@·~ì«h>
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C1. Argininosuccinase Deficiency (ASA) <¿zÀ˧@·~ì«h>
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C2. Citrullinemia (CIT) <¿zÀ˧@·~ì«h>
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C6. Propionic Acidemia (PA) <¿zÀ˧@·~ì«h>
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C12. 3-Hydroxy-3-Methylglutaric Aciduria (HMG) <¿zÀ˧@·~ì«h>
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C15. 2-Methylbutyryl-CoA Dehydrogenase Deficiency (2MBCD) <¿zÀ˧@·~ì«h>
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C16. Beta- Ketothiolase Deficiency (BKT) (Mitochondrial Acetoacetyl-CoAThiolase
Deficiency) <¿zÀ˧@·~ì«h>
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C21. 3-Methylcrotonyl-CoA Carboxylase Deficiency (3MCC) <¿zÀ˧@·~ì«h>
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C22. Multiple Carboxylase Deficiency (MCD) <¿zÀ˧@·~ì«h>
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C35. 3-Methylglutaconyl-CoA Hydratase Deficiency (MGAI) <¿zÀ˧@·~ì«h>
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C36. 2-Methyl-3-Hydroxybutyryl-CoA Dehydrogenase Deficiency (MHBD) <¿zÀ˧@·~ì«h>
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IV. «ØÄ³¦Ò¼{¶i¦æ¥ýÁͩʬãµoµû¦ô¤§¶µ¥Ø |
C7. Tyrosinemia Type I
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C8. Tyrosinemia Type II
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C9. Argininemia
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C10. Glutathione Synthetase Deficiency
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C11. Hyperammonemia , Hyperornithinemia , Homocitrullinuria
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C13. Isobutyryl-CoA Dehydrogenase Deficiency
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C14. Malonic Aciduria
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C18. Glutaric Acidemia Type II
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C23. Carnitine / Acylcarnitine Translocase Deficiency
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C24. Carnitine Palmitoyltransferase Deficiency Type I
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C25. Carnitine Palmitoyltransferase Deficiency Type II
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C26. 2,4 Dienoyl-CoA Reductase Deficiency
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C27. Long Chain Acyl-CoA Dehydrogenase Deficiency
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C28. Long Chain Hydroxy Acyl-CoA Dehydrogenase Deficiency
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C29. Short Chain Acyl-CoA Dehydrogenase Deficiency
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C30. Short Chain Hydroxy Acyl-CoA Dehydrogenase Deficiency
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C31. Very Long Chain Acyl-CoA Dehydrogenase Deficiency
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C32. Carbamoylphosphate Synthetase Deficiency
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C33. N-Acetylglutamate Synthetase Deficiency
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C34. Ornithine Transcarbamylase Deficiency
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C37. Carnitine Transporter Defect
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V. «ØÄ³¥Ø«e¼È¤£¦Ò¼{¶i¦æ¿zÀˤ§¶µ¥Ø |
B2. Cystic Fibrosis
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B4. Sickle Cell Anemia
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C17. Nonketotic Hyperglycinemia
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C19. Hyperprolinemia Type I
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C20. Hyperprolinemia Type II
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VI. ©|«Ýµo®i¤Î±´°Q¤§¶µ¥Ø |
D1. Duchenne Muscular Dystrophy
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D2. Gaucher Disease
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D3. Wilson Disease
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D4. Fabry Disease
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D5. Biliary Atresia
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D6. Congenital Toxoplasmosis (TOXO)
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D7. Severe Combined Immunodeficiency (SCID)
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