Associated Papers
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
Alharbi H et al.
Journal of Inherited Metabolic Disease, 2023
Expanding the phenotype of ATP6AP1 deficiency.
Barua S et al.
Cold Spring Harbor Molecular Case Studies, 2022
Liver failure and x-linked immunodeficiency type 47.
Gumm AJ et al.
Pediatric Transplantation, 2020
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