Phenotypes of undiagnosed adults with actionable OTC and GLA variants.

doi:10.1016/j.xhgg.2023.100226

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Phenotypes of undiagnosed adults with actionable OTC and GLA variants.

HGG advances - 12 Oct 2023

Gold Jessica I, Madhavan Sarina, Park Joseph, Zouk Hana, Perez Emma, Strong Alanna, Drivas Theodore G, Karaa Amel, Yudkoff Marc, Rader Daniel, Green Robert C, Gold Nina B

Abstract excerpt

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, counseling, and management. Using data from 57,340 participants in two hospital biobanks, we assessed the frequency and phenotypes of...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Fabry Disease
Share to Genotype
Share to Hospitals
Share to Penetrance

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Phenotype

Source

Open in PubMed Open full text

Identifiers

PMID: 37593415
DOI: 10.1016/j.xhgg.2023.100226
PMCID: PMC10428110

Provenance

PubMed metadata and Literature Corpus relationships.