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

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

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Detalles Bibliográficos
Autores principales: Du, Juan, Dou, Li-Min, Jin, Yong-Hong, Wen, Qing-Fen, Lin, Ya-Fen, Wang, Jian-She
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9702534/
https://www.ncbi.nlm.nih.gov/pubmed/36452356
http://dx.doi.org/10.3389/fped.2022.999596

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9702534/
https://www.ncbi.nlm.nih.gov/pubmed/36452356
http://dx.doi.org/10.3389/fped.2022.999596

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