Genetics in Medicine Open (Jan 2023)

P031: Fabry disease: Genotype/phenotype correlations for 17 novel GLA mutations by GLA activity and plasma Lyso-Gb3 levels

Neal Cody,
Yu Leng Phua,
Wenjiao Li,
Irina Nazarenko,
Brandon Stauffer,
Hongjie Chen,
Jing Xiao,
Lisa Edelmann,
Ruth Kornreich,
Chunli Yu,
Robert Desnick

Affiliations

Neal Cody: Icahn School of Medicine at Mount Sinai, Sema4
Yu Leng Phua: Icahn School of Medicine at Mount Sinai, Sema4
Wenjiao Li: Icahn School of Medicine at Mount Sinai, Sema4
Irina Nazarenko: Sema4
Brandon Stauffer: Sema4
Hongjie Chen: Sema4
Jing Xiao: Sema4
Lisa Edelmann: Icahn School of Medicine at Mount Sinai, Sema4
Ruth Kornreich: Sema4
Chunli Yu: Icahn School of Medicine at Mount Sinai, Sema4
Robert Desnick: Icahn School of Medicine at Mount Sinai, Sema4

Journal volume & issue: Vol. 1, no. 1
p. 100041

Abstract

No abstracts available.

Published in Genetics in Medicine Open

ISSN: 2949-7744 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Science: Biology (General): Genetics; Medicine
Website: https://www.sciencedirect.com/journal/genetics-in-medicine-open

About the journal