Browse by Journal Title

2021

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

2012

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