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1. ½Å±Ô°Ë»ç : Osmotic fragility test (Flow cytometry)
2. °Ë»ç¸í, °Ë»ç¹æ¹ý, º¸ÇèÁ¤º¸ º¯°æ : SMN1 gene mutation
3. Âü°íÄ¡ º¯°æ : N-methylformamide (Ư°Ë), Specific IgG F40G (Tuna IgG)
4. °Ë»çÀÏÁ¤ º¯°æ : Methylmalonic acid (P) Á¤·®, ¿äÁß ¸ÞÆ¿À̼ҺÎÆ¿ÄÉÅæ(MIBK) (Ư°Ë), t,t-muconic acid (Ư°Ë), Zinc protoporphyrin (Ư°Ë), ¿äÁß ¾ÈƼ¸ó(Sb) (Ư°Ë)
5. °Ë»çÀÏÁ¤, °á°úº¸°í º¯°æ : ¿äÁß Æä³î(Phenol) (Ư°Ë)
6. ¾÷¹«¿¡ Âü°íÇϽñ⠹ٶó¸ç, ¹®ÀÇ»çÇ×ÀÌ ÀÖÀ¸½Ã¸é ÇмúºÎ·Î ¹®ÀÇÇÏ¿© ÁֽʽÿÀ.
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