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Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
Vogt, G., El Choubassi, N., Herczegfalvi, Á., Kölbel, H., Lekaj, A., Schara, U., Holtgrewe, M., Krause, S., Horvath, R., Schuelke, M., Hübner, C., Mundlos, S., Roos, A., Lochmüller, H., Karcagi, V., Kornak, U. and Fischer‐Zirnsak, B.
Journal of Inherited Metabolic Disease 44 (4): 972-986. July 2021

Prediction of long-term outcome in glycine encephalopathy: a clinical survey.
Hennermann, J.B., Berger, J.M., Grieben, U., Scharer, G. and Van Hove, J.L.K.
Journal of Inherited Metabolic Disease 35 (2): 253-61. March 2012