Phenotypes of undiagnosed adults with actionable OTC and GLA variants

Phenotypes of undiagnosed adults with actionable OTC and GLA variants

Summary: Inherited metabolic disorders (IMDs) are variably expressive, complicating identification of affected individuals. A genotype-first approach can identify individuals at risk for morbidity and mortality from undiagnosed IMDs and can lead to protocols that improve clinical detection, counseli...

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Bibliographic Details
Main Authors: Jessica I. Gold, Sarina Madhavan, Joseph Park, Hana Zouk, Emma Perez, Alanna Strong, Theodore G. Drivas, Amel Karaa, Marc Yudkoff, Daniel Rader, Robert C. Green, Nina B. Gold
Format: Article
Language:English
Published: Elsevier 2023-10-01
Series:HGG Advances
Subjects:
Ornithine transcarbamylase (OTC) deficiency
Fabry disease
Genotype first approach
Hospital biobank
Inherited metabolic disorder
Secondary findings
Online Access:http://www.sciencedirect.com/science/article/pii/S2666247723000581

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http://www.sciencedirect.com/science/article/pii/S2666247723000581

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