Associated Papers
Expanding the phenotype of ATP6AP1 deficiency.
Barua S et al.
Cold Spring Harbor Molecular Case Studies, 2022
Congenital disorder of glycosylation caused by mutation of ATP6AP1 gene (c.1036G>A) in a Chinese infant: A case report.
Yang X et al.
World Journal of Clinical Cases, 2021
Severe phenotype of ATP6AP1-CDG in two siblings with a novel mutation leading to a differential tissue-specific ATP6AP1 protein pattern, cellular oxidative stress and hepatic copper accumulation.
Ondruskova N et al.
Journal of Inherited Metabolic Disease, 2020
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
Dimitrov B et al.
Molecular Genetics and Metabolism, 2018
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
Evers C et al.
Molecular Genetics and Metabolism, 2017
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