- Case Report
- Zellweger Syndrome : First Confirmed Neonatal Case in Korea
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Sung Sin Kim, Yun Hwa An, Yun Sil Chang, Dong Kyu Jin, Won Soon Park, Moon Hang Lee, Jong Won Kim, Hye Kyoung Yoon, Bo Kyoung Kim
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Clin Exp Pediatr. 2001;44(6):694-698. Published online June 15, 2001
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We describe below a case of Zellweger syndrome case with facial dysmorphism, profound hypotonia, and hepatomegaly. He died at the age of 2 months. Zellweger syndrome is a disease marked by the absence of hepatic and renal peroxisomes. Because peroxisomes have many vital anabolic and catabolic functions within the cell, their absence results in profound cellular dysfunction. A biochemical study... |
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