31 Einträge gefunden

1. Mandibular condyle morphology among patients with mucopolysaccharidosis: an observational study of panoramic radiographs

   1. Schmid-Herrmann, Carmen Ulrike
   2. Muschol, Nicole
   3. Fuhrmann, Vera
   4. Koehn, Anja Friederike
   5. Lezius, Susanne
   6. Kahl-Nieke, Bärbel
   7. Koehne, Till

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
2. Early enzyme replacement therapy prevents dental and craniofacial abnormalities in a mouse model of mucopolysaccharidosis type VI

   1. Nagpal, Rohit
   2. Georgi, Gina
   3. Knauth, Sarah
   4. Schmid-Herrmann, Carmen
   5. Muschol, Nicole
   6. Braulke, Thomas
   7. Kahl-Nieke, Bärbel

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
3. Clinical and Genetic Aspects of Juvenile Onset Pompe Disease

   1. Holzwarth, Johanna
   2. Minopoli, Nadja
   3. Pfrimmer, Charlotte
   4. Smitka, Martin
   5. Borrel, Sabine
   6. Kirschner, Janbernd
   7. Muschol, Nicole

   2022 - Forschungsinformationssystem des UKE - frei zugänglich
4. Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease

   1. Atiskova, Yevgeniya
   2. Wildner, Jan
   3. Spitzer, Martin Stephan
   4. Aries, Charlotte
   5. Muschol, Nicole
   6. Dulz, Simon

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
5. Assessment of small fiber neuropathy in patients carrying the non-classical Fabry variant p.D313Y

   1. Cossel, Katharina V
   2. Muschol, Nicole
   3. Friedrich, Reinhard E
   4. Glatzel, Markus
   5. Ammer, Luise
   6. Lohmöller, Benjamin
   7. Bendszus, Martin

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
6. A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A

   1. Wijburg, Frits A
   2. Whitley, Chester B
   3. Muenzer, Joseph
   4. Gasperini, Serena
   5. Del Toro, Mireia
   6. Muschol, Nicole
   7. Cleary, Maureen

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
7. Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I

   1. Giugliani, Roberto
   2. Muschol, Nicole
   3. Keenan, Hillary A
   4. Dant, Mark
   5. Muenzer, Joseph

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
8. Enzyme replacement therapy in mice lacking arylsulfatase B targets bone remodeling cells, but not chondrocytes

   1. Hendrickx, Gretl
   2. Danyukova, Tatyana
   3. Baranowsky, Anke
   4. Rolvien, Tim
   5. Angermann, Alexandra
   6. Schweizer, Michaela
   7. Keller, Johannes

   2020 - Forschungsinformationssystem des UKE
9. Assessment of Peripheral Nervous System Alterations in Patients with the Fabry Related GLA-Variant p.A143T

   1. Godel, Tim
   2. V Cossel, Katharina
   3. Friedrich, Reinhard E
   4. Glatzel, Markus
   5. Canaan-Kühl, Sima
   6. Duning, Thomas
   7. Kronlage, Moritz

   2020 - Forschungsinformationssystem des UKE
10. Obstructive sleep apnea and craniofacial appearance in MPS type I-Hurler children after hematopoietic stem cell transplantation

    1. Koehne, Till
    2. Müller-Stöver, Sarah
    3. Köhn, Anja
    4. Stumpfe, Katharina
    5. Lezius, Susanne
    6. Schmid, Carmen
    7. Lukacs, Zoltan

    2019 - Forschungsinformationssystem des UKE
11. Retinal hyperreflective foci in Fabry disease

    1. Atiskova, Yevgeniya
    2. Rassuli, Rahman
    3. Koehn, Anja Friederike
    4. Golsari, Amir
    5. Wagenfeld, Lars
    6. du Moulin, Marcel
    7. Muschol, Nicole

    2019 - Forschungsinformationssystem des UKE - frei zugänglich
12. Hip Dysplasia in Mucopolysaccharidosis Type IVA (Morquio A Syndrome) Treated by Proximal Femoral Valgization Osteotomy: A Case Report

    1. Berger-Groch, Josephine
    2. Rupprecht, Martin
    3. Stuecker, Ralf
    4. Muschol, Nicole
    5. Breyer, Sandra R

    2018 - Forschungsinformationssystem des UKE - frei zugänglich
13. Serum Biomarkers of Endothelial Dysfunction in Fabry Associated Cardiomyopathy

    1. Loso, Jefferson
    2. Lund, Natalie
    3. Avanesov, Maxim
    4. Muschol, Nicole
    5. Lezius, Susanne
    6. Cordts, Kathrin
    7. Schwedhelm, Edzard

    2018 - Forschungsinformationssystem des UKE - frei zugänglich
14. Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study

    1. Koehne, Till
    2. Köhn, Anja
    3. Friedrich, Reinhard E
    4. Kordes, Uwe
    5. Schinke, Thorsten
    6. Muschol, Nicole
    7. Kahl-Nieke, Bärbel

    2018 - Forschungsinformationssystem des UKE
15. Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa

    1. Berger, Kenneth I
    2. Burton, Barbara K
    3. Lewis, Gregory D
    4. Tarnopolsky, Mark
    5. Harmatz, Paul R
    6. Mitchell, John J
    7. Muschol, Nicole

    2018 - Forschungsinformationssystem des UKE - frei zugänglich
16. Human dorsal root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy

    1. Godel, Tim
    2. Bäumer, Philipp
    3. Pham, Mirko
    4. Köhn, Anja
    5. Muschol, Nicole
    6. Kronlage, Moritz
    7. Kollmer, Jennifer

    2017 - Forschungsinformationssystem des UKE
17. Mannose 6-phosphate-dependent targeting of lysosomal enzymes is required for normal craniofacial and dental development

    1. Koehne, Till
    2. Markmann, Sandra
    3. Schweizer, Michaela
    4. Muschol, Nicole
    5. Friedrich, Reinhard E
    6. Hagel, Christian
    7. Glatzel, Markus

    2016 - Forschungsinformationssystem des UKE
18. Nerve ultrasound in clinical management of carpal tunnel syndrome in mucopolysaccharidosis

    1. Bäumer, Tobias
    2. Bühring, Nina
    3. Schelle, Thomas
    4. Münchau, Alexander
    5. Muschol, Nicole

    2016 - Forschungsinformationssystem des UKE
19. Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation

    1. Schmidt, Mona
    2. Breyer, Sandra
    3. Löbel, Ulrike
    4. Yarar, Sinef
    5. Stücker, Ralf
    6. Ullrich, Kurt
    7. Müller, Ingo

    2016 - Forschungsinformationssystem des UKE - frei zugänglich
20. Mannose 6 phosphorylation of lysosomal enzymes controls B cell functions

    1. Otomo, Takanobu
    2. Schweizer, Michaela
    3. Kollmann, Katrin
    4. Schumacher, Valéa
    5. Muschol, Nicole
    6. Tolosa, Eva
    7. Mittrücker, Hans-Willi

    2015 - Forschungsinformationssystem des UKE