Defining the mild variant of leukocyte adhesion deficiency type <scp>II</scp> ( <scp>SLC35C1</scp> ‐congenital disorder of glycosylation) and response to <scp>l</scp> ‐fucose therapy: Insights from two new families and review of the literature-Reference-Cited by-同舟云学术

Defining the mild variant of leukocyte adhesion deficiency type II ( SLC35C1 ‐congenital disorder of glycosylation) and response to l ‐fucose therapy: Insights from two new families and review of the literature

Published:2022-03-26 Issue:7 Volume:188 Page:2005-2018
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Tahata Shawn¹^ORCID,Raymond Kimiyo²,Quade Marie²,Barnes Sara³,Boyer Suzanne¹,League Stacy²,Kumanovics Attila²,Abraham Roshini²⁴,Jacob Eapen³,Menon Prem⁵,Morava Eva¹

Affiliation:

1. Department of Clinical Genomics Mayo Clinic Rochester Minnesota USA

2. Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota USA

3. Division of Transfusion Medicine Mayo Clinic Rochester Minnesota USA

4. Department of Pathology and Laboratory Medicine Nationwide Children's Hospital Columbus Ohio USA

5. Asthma, Allergy, and Immunology Center Baton Rouge Louisiana USA

Funder

National Center for Advancing Translational Sciences

Publisher

Wiley

Subject

Genetics (clinical),Genetics