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Case Report

Zellweger Syndrome : First Confirmed Neonatal Case in Korea

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

Clin Exp Pediatr. 2001;44(6):694-698. Published online June 15, 2001

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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