생화학유전학-효소분석검사 | 효소분석검사 | 생화학유전학 | 검사 안내 | 의학유전학센터

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생화학유전학-효소분석검사

생화학유전학 생화학 유전학 검사 : 유전성 대사 질환에서 결핍된 원인 효소를 분석하는 검사 Quantitative amino acid analysis (의뢰검사) Enzyme assay Galactose-1-phosphate uridyltransferase : Galactosemia β-Galactosidase : GM1-gangliosidosis β-Glucosidase : Gaucher disease Hexosaminidase A : Tay-Sachs disease α-Mannosidase : Mannosidosis Arylsulfatase A : Metachromatic leukodystrophy Biotinidase : Biotinidase deficiency Urine organic acid analysis (의뢰검사) α-N-Acetylglucosaminidase : Sanfilippo syndrome α-Galactosidase : Fabry disease α-Glucosidase : Pompe disease β-Glucuronidase : Mucopolysaccharidosis type VII α-Iduronidase : Mucopolysaccharidosis type I Neuraminidase : Sialidosis Arylsulfatase B : Maroteaux-Lamy syndrome

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