Leiden University Scholarly Publications

Dimitrov, B.; Himmelreich, N.; Ederveen, A.L.H.; Luchtenborg, C.; Okun, J.G.; Breuer, M.; ... ; Thiel, C. 2018

Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG

Article / Letter to editor

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