1. "Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay. Issue 9 (18th July 2019) Authors: Jahic, Amir; Günther, Sven; Muschol, Nicole; Fossøy Stadheim, Barbro; Braaten, Øivind; Kjensli Hyldebrandt, Hanne; Kuiper, Gé‐Ann; Tylee, Karen; Wijburg, Frits A.; Beetz, Christian Journal: Molecular genetics & genomic medicine Issue: Volume 7:Issue 9(2019) Page Start: n/a Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. A Case of a Bilateral Cicatricial Upper Eyelid Entropion After Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type I. (May 2017) Authors: Dulz, Simon; Wagenfeld, Lars; Richard, Gisbert; Schrum, Johanna; Muschol, Nicole; Keserü, Matthias Journal: Ophthalmic plastic and reconstructive surgery Issue: Volume 33(2017)Supplement 3S Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. Assessment of small fiber neuropathy in patients carrying the non‐classical Fabry variant p.D313Y. Issue 5 (19th February 2021) Authors: von Cossel, Katharina; Muschol, Nicole; Friedrich, Reinhard E.; Glatzel, Markus; Ammer, Luise; Lohmöller, Benjamin; Bendszus, Martin; Mautner, Victor‐Felix; Godel, Tim Journal: Muscle & nerve Issue: Volume 63:Issue 5(2021) Page Start: 745 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Comprehensive long‐term efficacy and safety of recombinant human alpha‐mannosidase (velmanase alfa) treatment in patients with alpha‐mannosidosis. Issue 6 (3rd May 2018) Authors: Lund, Allan M.; Borgwardt, Line; Cattaneo, Federica; Ardigò, Diego; Geraci, Silvia; Gil‐Campos, Mercedes; De Meirleir, Linda; Laroche, Cécile; Dolhem, Philippe; Cole, Duncan; Tylki‐Szymanska, Anna; Lopez‐Rodriguez, Monica; Guillén‐Navarro, Encarna; Dali, Christine I.; Héron, Bénédicte; Fogh, Jens... Journal: Journal of inherited metabolic disease Issue: Volume 41:Issue 6(2018) Page Start: 1225 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Enzyme replacement therapy in mice lacking arylsulfatase B targets bone-remodeling cells, but not chondrocytes. (15th January 2020) Authors: Hendrickx, Gretl; Danyukova, Tatyana; Baranowsky, Anke; Rolvien, Tim; Angermann, Alexandra; Schweizer, Michaela; Keller, Johannes; Schröder, Jörg; Meyer-Schwesinger, Catherine; Muschol, Nicole; Paganini, Chiara; Rossi, Antonio; Amling, Michael; Pohl, Sandra; Schinke, Thorsten Journal: Human molecular genetics Issue: Volume 29:Number 5(2020) Page Start: 803 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Hip Morphology in MPS-1H Patients: An MRI-based Study. Issue 9 (October 2018) Authors: Breyer, Sandra R.; Muschol, Nicole; Schmidt, Mona; Rupprecht, Martin; Babin, Kornelia; Herrmann, Jochen; Stücker, Ralf Journal: Journal of pediatric orthopaedics Issue: Volume 38:Issue 9(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Human dorsal root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy. (19th September 2017) Authors: Godel, Tim; Bäumer, Philipp; Pham, Mirko; Köhn, Anja; Muschol, Nicole; Kronlage, Moritz; Kollmer, Jennifer; Heiland, Sabine; Bendszus, Martin; Mautner, Victor-Felix Journal: Neurology Issue: Volume 89:Number 12(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open‐label, phase 2 study. Issue 2 (24th October 2016) Authors: Harmatz, Paul R.; Mengel, Eugen; Geberhiwot, Tarekegn; Muschol, Nicole; Hendriksz, Christian J.; Burton, Barbara K.; Jameson, Elisabeth; Berger, Kenneth I.; Jester, Andrea; Treadwell, Marsha; Sisic, Zlatko; Decker, Celeste Journal: American journal of medical genetics Issue: Volume 173:Issue 2(2017) Page Start: 375 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I. Issue 7 (2nd November 2020) Authors: Giugliani, Roberto; Muschol, Nicole; Keenan, Hillary A.; Dant, Mark; Muenzer, Joseph Journal: Archives of disease in childhood Issue: Volume 106:Issue 7(2021) Page Start: 674 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗