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Paper Details

ALG8-CDG: Molecular and phenotypic expansion suggests clinical management guidelines.
J Inherit Metab Dis
6
2022
-, ALG8, ALG8-, CDG, Congenital disorders of glycosylation, autism spectrum disorder, hepatic involvement, hypotonia, intellectual disability, monogenic disorders, ocular, musculoskeletal, dermatologic, endocrine, and cardiac abnormalities, patients, protein-losing enteropathy
Author NameAffiliation
Bobby G Ng
Lynne A WolfeNational Institutes of Health
Lynne A WolfeNational Institutes of Health
Kimiyo RaymondMayo Clinic
Miao HeChildren's Hospital of Philadelphia
Hudson H Freeze
Andrew C EdmondsonThe Children's Hospital of Philadelphia
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Release 1.2