1. Long‐term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series. Issue 5 (5th March 2014) Authors: Lampe, Christina; Bosserhoff, Ann‐Kathrin; Burton, Barbara K.; Giugliani, Roberto; de Souza, Carolina F.; Bittar, Camila; Muschol, Nicole; Olson, Rebecca; Mendelsohn, Nancy J. Journal: Journal of inherited metabolic disease Issue: Volume 37:Issue 5(2014) Page Start: 823 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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) ↗
3. The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover. (24th August 2018) Authors: Pohl, Sandra; Angermann, Alexandra; Jeschke, Anke; Hendrickx, Gretl; Yorgan, Timur A; Makrypidi‐Fraune, Georgia; Steigert, Anita; Kuehn, Sonja C; Rolvien, Tim; Schweizer, Michaela; Koehne, Till; Neven, Mona; Winter, Olga; Velho, Renata Voltolini; Albers, Joachim; Streichert, Thomas; Pestka, Jan M... Journal: Journal of bone and mineral research Issue: Volume 33:Number 12(2018) Page Start: 2186 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations. Issue 7 (13th April 2019) Authors: Velho, Renata Voltolini; Harms, Frederike L.; Danyukova, Tatyana; Ludwig, Nataniel F.; Friez, Michael J.; Cathey, Sara S.; Filocamo, Mirella; Tappino, Barbara; Güneş, Nilay; Tüysüz, Beyhan; Tylee, Karen L.; Brammeier, Kathryn L.; Heptinstall, Lesley; Oussoren, Esmee; van der Ploeg, Ans T.; Peters... Journal: Human mutation Issue: Volume 40:Issue 7(2019) Page Start: 842 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. 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) ↗
6. Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double‐blind, pilot study. (10th June 2015) Authors: Burton, Barbara K.; Berger, Kenneth I.; Lewis, Gregory D.; Tarnopolsky, Mark; Treadwell, Marsha; Mitchell, John J.; Muschol, Nicole; Jones, Simon A.; Sutton, V. Reid; Pastores, Gregory M.; Lau, Heather; Sparkes, Rebecca; Genter, Fred; Shaywitz, Adam J.; Harmatz, Paul Journal: American journal of medical genetics Issue: Volume 167:Number 10(2015:Oct.) Page Start: 2272 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. 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) ↗
8. Treatment of Fabry Disease management with migalastat—outcome from a prospective 24 months observational multicenter study (FAMOUS). Issue 3 (16th March 2021) Authors: Lenders, Malte; Nordbeck, Peter; Kurschat, Christine; Eveslage, Maria; Karabul, Nesrin; Kaufeld, Jessica; Hennermann, Julia B; Patten, Monica; Cybulla, Markus; Müntze, Jonas; Üçeyler, Nurcan; Liu, Dan; Das, Anibh M; Sommer, Claudia; Pogoda, Christian; Reiermann, Stefanie; Duning, Thomas; Gaedeke,... Journal: European heart journal Issue: Volume 8:Issue 3(2022) Page Start: 272 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. 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) ↗
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) ↗