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Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?

INTRODUCTION: Biotinidase synthesis is needed to recycle biotin for essential metabolic reactions. Biotinidase activity is lower than normal levels in advanced liver disease but is higher in hepatic glycogen storage disorders (GSDs), however the cause of this association remains unclear. METHODS: In...

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Detalles Bibliográficos
Autores principales:	El-Gharbawy, Areeg, Tolun, Adviye A., Halaby, Carine A., Austin, Stephanie L., Kishnani, Priya S., Bali, Deeksha S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2022
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9248216/ https://www.ncbi.nlm.nih.gov/pubmed/35782603 http://dx.doi.org/10.1016/j.ymgmr.2022.100856

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