P076: Molybdenum cofactor deficiency: Results of rapid S-sulfocysteine analysis and genome sequencing still not rapid enough

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Bibliographic Details
Main Authors: Molly Crenshaw, Mariele Anneling, Monika Williams, Milap Patel, Benjamin Cocanougher, Sarah Young, Areeg El-Gharbawy, Dmitriy Niyazov, Ashlee Stiles
Format: Article
Language:English
Published: Elsevier 2025-01-01
Series:Genetics in Medicine Open
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774425009598
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