Glycogen storage disease type Ia misdiagnosed as multiple acyl-coenzyme A dehydrogenase deficiency by mass spectrometry

ObjectiveTo report a case of glycogen storage disease (GSD) type Ia misdiagnosed as multiple acyl-coenzyme a dehydrogenase deficiency (MADD) by mass spectrometry.MethodsA 7 months old boy was admitted to our hospital for elevated transaminase levels lasting more than 1 month. His blood biochemistry...

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Main Authors: Juan Du (Author), Li-Min Dou (Author), Yong-Hong Jin (Author), Qing-Fen Wen (Author), Ya-Fen Lin (Author), Jian-She Wang (Author)
Format: Book
Published: Frontiers Media S.A., 2022-11-01T00:00:00Z.
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3rd Floor Main Library

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