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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Autors principals:	Juan Du, Li-Min Dou, Yong-Hong Jin, Qing-Fen Wen, Ya-Fen Lin, Jian-She Wang
Format:	Artigo
Idioma:	Inglês
Publicat:	Frontiers Media S.A. 2022-11-01
Col·lecció:	Frontiers in Pediatrics
Matèries:	glycogen storage disease type Ia glucose-6-Phosphatase multiple acyl- coenzyme a dehydrogenase deficiency mass spectrometry gene variant
Accés en línia:	https://www.frontiersin.org/articles/10.3389/fped.2022.999596/full
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