2021

Expanding the clinical and molecular spectrum of ATP6V1A related metabolic cutis laxa.
Vogt, G. ORCID: https://orcid.org/0000-0002-7475-2972, El Choubassi, N. ORCID: https://orcid.org/0000-0002-9112-8223, Herczegfalvi, Á., Kölbel, H., Lekaj, A., Schara, U., Holtgrewe, M. ORCID: https://orcid.org/0000-0002-3051-1763, Krause, S. ORCID: https://orcid.org/0000-0002-3141-886X, Horvath, R., Schuelke, M. ORCID: https://orcid.org/0000-0003-2824-3891, Hübner, C., Mundlos, S. ORCID: https://orcid.org/0000-0002-9788-3166, Roos, A., Lochmüller, H. ORCID: https://orcid.org/0000-0003-2324-8001, Karcagi, V., Kornak, U. ORCID: https://orcid.org/0000-0002-4582-9838 and Fischer‐Zirnsak, B. ORCID: https://orcid.org/0000-0002-1075-7571
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. ORCID: https://orcid.org/0000-0002-6252-8738, Scharer, G. and Van Hove, J.L.K.
Journal of Inherited Metabolic Disease 35 (2): 253-61. March 2012