Hasil Pencarian - Nicole Muschol

  • Menampilkan 1 - 19 hasil dari 19
Perbaiki Hasil
  1. 1
    Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease

    Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease oleh Yevgeniya Atiskova, Jan Wildner, Martin Stephan Spitzer, Charlotte Aries, Nicole Muschol, Simon Dulz

    Diterbitkan 2021-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  2. 2
    Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data

    Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data oleh Elsa Shapiro, Charles Marques Lourenço, Neslihan Onenli Mungan, Nicole Muschol, Cara O’Neill, Suresh Vijayaraghavan

    Diterbitkan 2019-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  3. 3
    P004: Real-world clinical profiles of patients with alpha-mannosidosis: Baseline evaluations from the SPARKLE Registry

    P004: Real-world clinical profiles of patients with alpha-mannosidosis: Baseline evaluations from the SPARKLE Registry oleh Nicole Muschol, Nathalie Guffon, Andrea Ballabeni, Line Borgwardt, Allan Lund, Mercedes Gil-Campos, Francesca Dona, Julia Hennermann

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  4. 4
    O02: Baseline characteristics of a real-world population with alpha-mannosidosis: Insights from the SPARKLE Registry*

    O02: Baseline characteristics of a real-world population with alpha-mannosidosis: Insights from the SPARKLE Registry* oleh Nicole Muschol, Nathalie Guffon, Andrea Ballabeni, Line Borgwardt, Allan Lund, Mercedes Gil-Campos, Francesca Dona, Julia Hennermann

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  5. 5
    Retinal hyperreflective foci in Fabry disease

    Retinal hyperreflective foci in Fabry disease oleh Yevgeniya Atiskova, Rahman Rassuli, Anja Friederike Koehn, Amir Golsari, Lars Wagenfeld, Marcel du Moulin, Nicole Muschol, Simon Dulz

    Diterbitkan 2019-12-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  6. 6
    Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2

    Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2 oleh Charlotte Aries, Benjamin Lohmöller, Stephan Tiede, Stephan Tiede, Karolin Täuber, Karolin Täuber, Guido Hartmann, Cornelia Rudolph, Nicole Muschol

    Diterbitkan 2022-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  7. 7
    Comparison of classical Fabry and its p.D313Y and p.A143T variants by cardiac T1 mapping, LGE and feature tracking myocardial strain

    Comparison of classical Fabry and its p.D313Y and p.A143T variants by cardiac T1 mapping, LGE and feature tracking myocardial strain oleh Maxim Avanesov, Anahid Asgari, Nicole Muschol, Anja Friederike Köhn, Enver Tahir, Gerhard Adam, Paulus Kirchhof, Gunnar Lund, Ersin Cavus, Monica Patten

    Diterbitkan 2023-04-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  8. 8
    Serum Biomarkers of Endothelial Dysfunction in Fabry Associated Cardiomyopathy

    Serum Biomarkers of Endothelial Dysfunction in Fabry Associated Cardiomyopathy oleh Jefferson Loso, Natalie Lund, Maxim Avanesov, Nicole Muschol, Susanne Lezius, Kathrin Cordts, Kathrin Cordts, Edzard Schwedhelm, Edzard Schwedhelm, Monica Patten, Monica Patten

    Diterbitkan 2018-08-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  9. 9
    Early enzyme replacement therapy prevents dental and craniofacial abnormalities in a mouse model of mucopolysaccharidosis type VI

    Early enzyme replacement therapy prevents dental and craniofacial abnormalities in a mouse model of mucopolysaccharidosis type VI oleh Rohit Nagpal, Gina Georgi, Sarah Knauth, Carmen Schmid-Herrmann, Nicole Muschol, Thomas Braulke, Bärbel Kahl-Nieke, Michael Amling, Thorsten Schinke, Till Koehne, Julian Petersen

    Diterbitkan 2022-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  10. 10
    Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach

    Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach oleh Sally Lanar, Samantha Parker, Cara O’Neill, Alexia Marrel, Benoit Arnould, Bénédicte Héron, Nicole Muschol, Frits A. Wijburg, Anupam Chakrapani, Sophie Olivier, Karen Aiach

    Diterbitkan 2022-02-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  11. 11
    “Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay

    “Missing mutations” in MPS I: Identification of two novel copy number variations by an IDUA‐specific in house MLPA assay oleh Amir Jahic, Sven Günther, Nicole Muschol, Barbro Fossøy Stadheim, Øivind Braaten, Hanne Kjensli Hyldebrandt, Gé‐Ann Kuiper, Karen Tylee, Frits A. Wijburg, Christian Beetz

    Diterbitkan 2019-09-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  12. 12
    A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany

    A retrospective study of morbidity and mortality of chronic acid sphingomyelinase deficiency in Germany oleh Eugen Mengel, Nicole Muschol, Natalie Weinhold, Athanasia Ziagaki, Julia Neugebauer, Benno Antoni, Laura Langer, Maja Gasparic, Sophie Guillonneau, Marie Fournier, Fernando Laredo, Ruth Pulikottil-Jacob

    Diterbitkan 2024-04-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  13. 13
    Assessment of Peripheral Nervous System Alterations in Patients with the Fabry Related <i>GLA</i>-Variant p.A143T

    Assessment of Peripheral Nervous System Alterations in Patients with the Fabry Related <i>GLA</i>-Variant p.A143T oleh Tim Godel, Katharina von Cossel, Reinhard E. Friedrich, Markus Glatzel, Sima Canaan-Kühl, Thomas Duning, Moritz Kronlage, Sabine Heiland, Martin Bendszus, Nicole Muschol, Victor-Felix Mautner

    Diterbitkan 2020-11-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  14. 14
    Sanfilippo syndrome: consensus guidelines for clinical care

    Sanfilippo syndrome: consensus guidelines for clinical care oleh Nicole Muschol, Roberto Giugliani, Simon A. Jones, Joseph Muenzer, Nicholas J. C. Smith, Chester B. Whitley, Megan Donnell, Elise Drake, Kristina Elvidge, Lisa Melton, Cara O’Neill, MPS III Guideline Development Group

    Diterbitkan 2022-10-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  15. 15
    Impact of Elosulfase Alfa on Pain in Patients with Morquio A Syndrome over 52 Weeks

    Impact of Elosulfase Alfa on Pain in Patients with Morquio A Syndrome over 52 Weeks oleh Marsha Treadwell, Paul R. Harmatz, Barbara K. Burton, John J. Mitchell, Nicole Muschol, Simon A. Jones, Gregory M. Pastores, Heather A. Lau, Rebecca Sparkes, V. Reid Sutton, Bianca Meesen, Christine A. Haller, Adam J. Shaywitz, Jeffrey I. Gold

    Diterbitkan 2017-07-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  16. 16
    Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III

    Development of a Clinical Algorithm for the Early Diagnosis of Mucopolysaccharidosis III oleh Maria Escolar, Jessica Bradshaw, Valerie Tharp Byers, Roberto Giugliani, Lynn Golightly, Charles Marques Lourenço, Kimberly McDonald, Nicole Muschol, Imogen Newsom-Davis, Cara O’Neill, Holly L. Peay, Jennifer Siedman, Martha L. Solano, Tessa Wirt, Tim Wood, Lonnie Zwaigenbaum

    Diterbitkan 2020-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  17. 17
    A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B

    A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B oleh Nicole Muschol, Anja Koehn, Katharina von Cossel, Ilyas Okur, Fatih Ezgu, Paul Harmatz, Maria J. de Castro Lopez, Maria Luz Couce, Shuan-Pei Lin, Spyros Batzios, Maureen Cleary, Martha Solano, Igor Nestrasil, Brian Kaufman, Adam J. Shaywitz, Stephen M. Maricich, Bernice Kuca, Joseph Kovalchin, Eric Zanelli

    Diterbitkan 2023-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  18. 18
    P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis

    P486: A global Delphi consensus approach to monitoring and integrated care coordination of patients with alpha-mannosidosis oleh Can Ficicioglu, Nicole Muschol, Barbara Burton, Martin Magner, Mercedes Gil-Campos, Monica Lopez Rodriguez, Parul Jayakar, Allan Lund, Galit Tal, Jose Elias Garcia-Ortiz, Karolina Stepien, Carolyn Ellaway, Walla Al-Hertani, Roberto Giugliani, Sara Cathey, Julia Hennermann, Christina Lampe, Markey McNutt, Florian Lagler, Maurizio Scarpa, Vernon Sutton, Nathalie Guffon

    Diterbitkan 2024-01-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:
  19. 19
    Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy

    Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy oleh Fabian Braun, Ahmed Abed, Dominik Sellung, Manuel Rogg, Mathias Woidy, Oysten Eikrem, Nicola Wanner, Jessica Gambardella, Sandra D. Laufer, Fabian Haas, Milagros N. Wong, Bernhard Dumoulin, Paula Rischke, Anne Mühlig, Wiebke Sachs, Katharina von Cossel, Kristina Schulz, Nicole Muschol, Sören W. Gersting, Ania C. Muntau, Oliver Kretz, Oliver Hahn, Markus M. Rinschen, Michael Mauer, Tillmann Bork, Florian Grahammer, Wei Liang, Thorsten Eierhoff, Winfried Römer, Arne Hansen, Catherine Meyer-Schwesinger, Guido Iaccarino, Camilla Tøndel, Hans-Peter Marti, Behzad Najafian, Victor G. Puelles, Christoph Schell, Tobias B. Huber

    Diterbitkan 2023-06-01
    Dapatkan teks lengkap
    Artikel
    Simpan ke Daftar
    Disimpan di:

Alat Pencarian: