1. Antibody Epitope of Human α‐Galactosidase A Revealed by Affinity Mass Spectrometry: A Basis for Reversing Immunoreactivity in Enzyme Replacement Therapy of Fabry Disease. (16th April 2018) Authors: Kukacka, Zdenek; Iurascu, Marius; Lupu, Loredana; Rusche, Hendrik; Murphy, Mary; Altamore, Lorenzo; Borri, Fabio; Maeser, Stefan; Papini, Anna Maria; Hennermann, Julia; Przybylski, Michael Journal: ChemMedChem Issue: Volume 13:Number 9(2018) Page Start: 909 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders. Issue 1 (19th June 2013) Authors: Rüegger, Corinne M.; Lindner, Martin; Ballhausen, Diana; Baumgartner, Matthias R.; Beblo, Skadi; Das, Anibh; Gautschi, Matthias; Glahn, Esther M.; Grünert, Sarah C.; Hennermann, Julia; Hochuli, Michel; Huemer, Martina; Karall, Daniela; Kölker, Stefan; Lachmann, Robin H.; Lotz‐Havla, Amelie; Mösli... Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 1(2014) Page Start: 21 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Effect of alglucosidase alfa dosage on survival and walking ability in patients with classic infantile Pompe disease: a multicentre observational cohort study from the European Pompe Consortium. (January 2022) Authors: Ditters, Imke Anne Maartje; Huidekoper, Hidde Harmen; Kruijshaar, Michelle Elisabeth; Rizopoulos, Dimitris; Hahn, Andreas; Mongini, Tiziana Enrica; Labarthe, François; Tardieu, Marine; Chabrol, Brigitte; Brassier, Anais; Parini, Rossella; Parenti, Giancarlo; van der Beek, Nadine Anna Maria Elisab... Journal: Lancet Issue: Volume 6:Number 1(2022) Page Start: 28 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Extent, impact, and predictors of diagnostic delay in Pompe disease: A combined survey approach to unveil the diagnostic odyssey. Issue 1 (17th July 2019) Authors: Lagler, Florian B.; Moder, Angelika; Rohrbach, Marianne; Hennermann, Julia; Mengel, Eugen; Gökce, Seyfullah; Hundsberger, Thomas; Rösler, Kai M.; Karabul, Nesrin; Huemer, Martina Journal: JIMD reports Issue: Volume 49:Issue 1(2019) Page Start: 89 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Multicenter Female Fabry Study (MFFS) - clinical survey on current treatment of females with Fabry disease. Issue 1 (December 2016) Authors: Lenders, Malte; Hennermann, Julia; Kurschat, Christine; Rolfs, Arndt; Canaan-Kühl, Sima; Sommer, Claudia; Üçeyler, Nurcan; Kampmann, Christoph; Karabul, Nesrin; Giese, Anne-Katrin; Duning, Thomas; Stypmann, Jörg; Krämer, Johannes; Weidemann, Frank; Brand, Stefan-Martin; Wanner, Christoph; Brand, Eva Journal: Orphanet journal of rare diseases Issue: Volume 11:Issue 1(2016) Page Start: 1 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Symmetrical inflammatory erosive plaques and blisters in an infant. (3rd August 2017) Authors: Jahnke, Irina; Vogt, Annika; Stieler, Karola Maria; Hennermann, Julia; Blume‐Peytavi, Ulrike Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 15:Number 9(2017) Page Start: 956 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Symmetrische entzündliche, erosive Plaques und Blasen bei einem Säugling. (5th September 2017) Authors: Jahnke, Irina; Vogt, Annika; Stieler, Karola Maria; Hennermann, Julia; Blume‐Peytavi, Ulrike Journal: Journal der Deutschen Dermatologischen Gesellschaft Issue: Volume 15:Number 9(2017) Page Start: 955 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗