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Article

Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis.

Clinica chimica acta; international journal of clinical chemistry - 1 Jul 2018

Kang Eungu, Kim Yoon-Myung, Heo Sun Hee, Jung Euiseok, Kim Ki-Soo, Yoo Hyun Ju, Kim Eun Na, Kim Chong Jai, Kim Gu-Hwan, Lee Beom Hee

Abstract excerpt

Nonimmune hydrops fetalis is the most severe clinical manifestation of lysosomal storage diseases (LSDs). Around 14 different LSDs have been accounted for as 1-15% of the cause of nonimmune hydrops fetalis. We report a Korean infant affected by an extremely rare but severe form of sialic acid storage disease. The patient presented with nonimmune hydrops fetalis, dysmorphic facial features, hepatosplenomegaly, and...

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PMID: 29654786
DOI: 10.1016/j.cca.2018.04.016

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