Research ExplorerScientific StaffNicole Maria Muschol Publications

PD Dr.med. ID: 48191

Nicole Maria Muschol

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Publications

  1. 2024

  2. Long-Term Outcome of Infantile Onset Pompe Disease Patients Treated with Enzyme Replacement Therapy - Data from a German-Austrian Cohort

    Pfrimmer, C., Smitka, M., Muschol, N., Husain, R. A., Huemer, M., Hennermann, J. B., Schuler, R. & Hahn, A., 2024, In: J NEUROMUSCULAR DIS. 11, 1, p. 167-177 11 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  3. 2023

  4. Long-term safety and efficacy of velmanase alfa treatment in children under 6 years of age with alpha-mannosidosis: A phase 2, open label, multicenter study

    Guffon, N., Konstantopoulou, V., Hennermann, J. B., Muschol, N., Bruno, I., Tummolo, A., Ceravolo, F., Zardi, G., Ballabeni, A. & Lund, A., 07.2023, In: J INHERIT METAB DIS. 46, 4, p. 705-719 15 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  5. CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

    Ammer, L. S., Täuber, K., Perez, A., Dohrmann, T., Denecke, J., Santer, R., Blümlein, U., Ozga, A-K., Pohl, S. & Muschol, N. M., 18.06.2023, In: J CLIN MED. 12, 12, 4114.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  6. Accumulation of α-synuclein mediates podocyte injury in Fabry nephropathy

    Braun, F., Abed, A., Sellung, D., Rogg, M., Woidy, M., Eikrem, O., Wanner, N., Gambardella, J., Laufer, S. D., Haas, F., Wong, M. N., Dumoulin, B., Rischke, P., Mühlig, A. K., Sachs, W., von Cossel, K., Schulz, K., Muschol, N., Gersting, S. W., Muntau, A. C., Kretz, O., Hahn, O., Rinschen, M. M., Mauer, M., Bork, T., Grahammer, F., Liang, W., Eierhoff, T., Römer, W., Hansen, A., Meyer-Schwesinger, C., Iaccarino, G., Tøndel, C., Marti, H-P., Najafian, B., Puelles, V. G., Schell, C. & Huber, T. B., 01.06.2023, In: J CLIN INVEST. 133, 11, e157782.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  7. Comparison of classical Fabry and its p.D313Y and p.A143T variants by cardiac T1 mapping, LGE and feature tracking myocardial strain

    Avanesov, M., Asgari, A., Muschol, N., Köhn, A. F., Tahir, E., Adam, G., Kirchhof, P., Lund, G., Cavus, E. & Patten, M., 10.04.2023, In: SCI REP-UK. 13, 1, p. 5809

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  8. Management, vaccination status and COVID-19 morbidity of patients with Gaucher disease in Germany during the COVID-19 pandemic

    Niederau, C., Regenbogen, C., Fruehauf, H-M., Merkel, M., Ziagaki, A., Mengel, E., Baerwald, C., Muschol, N., Staufner, C., Lampe, C., Gillessen, A., Koehler, J. P. & Vom Dahl, S., 04.2023, In: Z GASTROENTEROL. 61, 4, p. 375-380 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  9. Effects of Infantile Hypophosphatasia on Human Dental Tissue

    Wölfel, E. M., von Kroge, S., Matthies, L., Köhne, T., Petz, K., Beikler, T., Schmid-Herrmann, C., Kahl-Nieke, B., Tsiakas, K., Santer, R., Muschol, N. M., Herrmann, J., Busse, B., Amling, M., Rolvien, T., Jandl, N. M. & Barvencik, F., 03.2023, In: CALCIFIED TISSUE INT. 112, 3, p. 308-319 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  10. Schindler disease type III: Clinical presentation of a patient carrying the homozygous missense variant c.973G > A (p.E325K) in the NAGA gene

    Förster, L., Tiede, S., Rudolph, C. & Muschol, N. M., 02.2023, In: MOL GENET METAB. 138, 2, 107104.

    Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review

  11. A phase I/II study on intracerebroventricular tralesinidase alfa in patients with Sanfilippo syndrome type B

    Muschol, N., Koehn, A., von Cossel, K., Okur, I., Ezgu, F., Harmatz, P., de Castro Lopez, M. J., Couce, M. L., Lin, S-P., Batzios, S., Cleary, M., Solano, M., Nestrasil, I., Kaufman, B., Shaywitz, A. J., Maricich, S. M., Kuca, B., Kovalchin, J. & Zanelli, E., 17.01.2023, In: J CLIN INVEST. 133, 2, e165076.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  12. 2022

  13. Sanfilippo syndrome: consensus guidelines for clinical care

    Muschol, N., Giugliani, R., Jones, S. A., Muenzer, J., Smith, N. J. C., Whitley, C. B., Donnell, M., Drake, E., Elvidge, K., Melton, L., O'Neill, C. & MPS III Guideline Development Group, 27.10.2022, In: ORPHANET J RARE DIS. 17, 1, p. 391

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  14. Longitudinal Natural History of Pediatric Subjects Affected with Mucopolysaccharidosis IIIB

    Okur, I., Ezgu, F., Giugliani, R., Muschol, N., Koehn, A., Amartino, H., Harmatz, P., de Castro Lopez, M. J., Couce, M. L., Lin, S-P., Batzios, S., Cleary, M., Solano, M., Peters, H., Lee, J., Nestrasil, I., Shaywitz, A. J., Maricich, S. M., Kuca, B., Kovalchin, J. & Zanelli, E., 10.2022, In: J PEDIATR-US. 249, p. 50-58.e2 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

    Schmid-Herrmann, C. U., Muschol, N., Fuhrmann, V., Koehn, A. F., Lezius, S., Kahl-Nieke, B. & Koehne, T., 09.2022, In: INT J PAEDIATR DENT. 32, 5, p. 737-744 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  16. Spinal cord compression in patients with mucopolysaccharidosis

    Pantel, T., Lindschau, M., Luebke, A. M., Kunkel, P., Dreimann, M., Muschol, N. & Eicker, S. O., 07.2022, In: EUR SPINE J. 31, 7, p. 1693-1699 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  17. Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis-A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients

    Ammer, L. S., Muschol, N. M., Santer, R., Lang, A., Breyer, S. R., Sasu, P. B., Petzoldt, M. & Dohrmann, T., 24.06.2022, In: J CLIN MED. 11, 13, 3650.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  18. Promising Effect of High Dose Ambroxol Treatment on Neurocognition and Motor Development in a Patient With Neuropathic Gaucher Disease 2

    Aries, C., Lohmöller, B., Tiede, S., Täuber, K., Hartmann, G., Rudolph, C. & Muschol, N. M., 06.06.2022, In: FRONT NEUROL. 13, p. 907317

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  19. Treatment of fabry disease with migalastat-outcome from a prospective 24 months observational multicenter study (FAMOUS)

    Lenders, M., Nordbeck, P., Kurschat, C., Eveslage, M., Karabul, N., Kaufeld, J., Hennermann, J. B., Patten, M., Cybulla, M., Müntze, J., Üçeyler, N., Liu, D., Das, A. M., Sommer, C., Pogoda, C., Reiermann, S., Duning, T., Gaedeke, J., von Cossel, K., Blaschke, D., Brand, S-M., Alexander Mann, W., Kampmann, C., Muschol, N., Canaan-Kühl, S. & Brand, E., 05.2022, In: EUR HEART J-CARD PHA. 8, 3, p. 272–281

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  20. Understanding disease symptoms and impacts and producing qualitatively-derived severity stages for MPS IIIA: a mixed methods approach

    Lanar, S., Parker, S., O'Neill, C., Marrel, A., Arnould, B., Héron, B., Muschol, N., Wijburg, F. A., Chakrapani, A., Olivier, S. & Aiach, K., 22.02.2022, In: ORPHANET J RARE DIS. 17, 1, p. 75

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  21. An observational, prospective, multicenter, natural history study of patients with mucopolysaccharidosis type IIIA

    Wijburg, F. A., Aiach, K., Chakrapani, A., Eisengart, J. B., Giugliani, R., Héron, B., Muschol, N., O'Neill, C., Olivier, S. & Parker, S., 02.2022, In: MOL GENET METAB. 135, 2, p. 133-142 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  22. Clinical and Genetic Aspects of Juvenile Onset Pompe Disease

    Holzwarth, J., Minopoli, N., Pfrimmer, C., Smitka, M., Borrel, S., Kirschner, J., Muschol, N., Hartmann, H., Hennermann, J. B., Neubauer, B. A., Hobbiebrunken, E., Husain, R. & Hahn, A., 02.2022, In: NEUROPEDIATRICS. 53, 1, p. 39-45 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  23. Combination of high-dose ambroxol and ERT in Gaucher disease type 2: A nearly age-appropriate neurocognitive and motor development after three years of treatment

    Aries, C., Lohmöller, B., Tiede, S., Täuber, K., Rudolph, C. & Muschol, N., 02.2022, In: MOL GENET METAB. 135, 2, S19.

    Research output: SCORING: Contribution to journal › Conference abstract in journal › Research › peer-review

  24. 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

    Ditters, I. A. M., Huidekoper, H. H., Kruijshaar, M. E., Rizopoulos, D., Hahn, A., Mongini, T. E., Labarthe, F., Tardieu, M., Chabrol, B., Brassier, A., Parini, R., Parenti, G., van der Beek, N. A. M. E., van der Ploeg, A. T., van den Hout, J. M. P. & European Pompe Consortium project group on classic infantile Pompe disease, 01.2022, In: LANCET CHILD ADOLESC. 6, 1, p. 28-37 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  25. Early enzyme replacement therapy prevents dental and craniofacial abnormalities in a mouse model of mucopolysaccharidosis type VI

    Nagpal, R., Georgi, G., Knauth, S., Schmid-Herrmann, C., Muschol, N., Braulke, T., Kahl-Nieke, B., Amling, M., Schinke, T., Koehne, T. & Petersen, J., 2022, In: FRONT PHYSIOL. 13, 998039.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  26. 2021

  27. Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III

    Di Lorenzo, G., Westermann, L. M., Schinke, T., Stürznickel, J., Ludwig, N. F., Ammer, L. S., Baranowsky, A., Ahmadi, S., Pourbarkhordariesfandabadi, E., Breyer, S. R., Board, T. N., Foster, A., Mercer, J., Tylee, K., Velho, R. V., Schweizer, M., Renné, T., Braulke, T., Randon, D. N., Sperb-Ludwig, F., de Camargo Pinto, L. L., Moreno, C. A., Cavalcanti, D. P., Amling, M., Kutsche, K., Winter, D., Muschol, N. M., Schwartz, I. V. D., Rolvien, T., Danyukova, T., Schinke, T. & Pohl, S., 12.2021, In: GENET MED. 23, 12, p. 2369-2377 9 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  28. Retinal vessel tortuosity as a prognostic marker for disease severity in Fabry disease

    Atiskova, Y., Wildner, J., Spitzer, M. S., Aries, C., Muschol, N. & Dulz, S., 20.11.2021, In: ORPHANET J RARE DIS. 16, 1, 485.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  29. Disease Manifestations in Mucopolysaccharidoses and Their Impact on Anaesthesia-Related Complications-A Retrospective Analysis of 99 Patients

    Ammer, L. S., Dohrmann, T., Muschol, N. M., Lang, A., Breyer, S. R., Ozga, A-K. & Petzoldt, M., 10.08.2021, In: J CLIN MED. 10, 16, p. 3518

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  30. A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A

    Wijburg, F. A., Whitley, C. B., Muenzer, J., Gasperini, S., Del Toro, M., Muschol, N., Cleary, M., Sevin, C., Shapiro, E. & Alexanderian, D., 13.07.2021, In: MOL GENET METAB. 134, 1-2, p. 175-181 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  31. Improvement in time to treatment, but not time to diagnosis, in patients with mucopolysaccharidosis type I

    Giugliani, R., Muschol, N., Keenan, H. A., Dant, M. & Muenzer, J., 07.2021, In: ARCH DIS CHILD. 106, 7, p. 674-679 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  32. Mucolipidosis type II and type III: a systematic review of 843 published cases

    Dogterom, E. J., Wagenmakers, M. A. E. M., Wilke, M., Demirdas, S., Muschol, N. M., Pohl, S., van der Meijden, J. C., Rizopoulos, D., van der Ploeg, A. T. & Oussoren, E., 25.06.2021, In: GENET MED. 23, 11, p. 2047-2056 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Review article › Research

  33. Assessment of small fiber neuropathy in patients carrying the non-classical Fabry variant p.D313Y

    Cossel, K. V., Muschol, N., Friedrich, R. E., Glatzel, M., Ammer, L., Lohmöller, B., Bendszus, M., Mautner, V-F. & Godel, T., 05.2021, In: MUSCLE NERVE. 63, 5, p. 745-750 6 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  34. Hip pathologies in mucopolysaccharidosis type III

    Breyer, S. R., Vettorazzi, E., Schmitz, L., Gulati, A., von Cossel, K. M., Spiro, A., Rupprecht, M., Stuecker, R. & Muschol, N. M., 19.03.2021, In: J ORTHOP SURG RES. 16, 1, 201.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  35. Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?

    Ammer, L. S., Pohl, S., Breyer, S. R., Aries, C., Denecke, J., Perez, A., Petzoldt, M., Schrum, J., Müller, I. & Muschol, N. M., 03.2021, In: MOL GENET METAB REP. 26, 100704.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  36. 2020

  37. Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2

    Kloth, K., Vater, I., Lindschau, R., Rau, I., Caliebe, A. & Muschol, N. M., 12.2020, In: MOL GENET METAB REP. 25, 100660.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  38. Assessment of Peripheral Nervous System Alterations in Patients with the Fabry Related GLA-Variant p.A143T

    Godel, T., V Cossel, K., Friedrich, R. E., Glatzel, M., Canaan-Kühl, S., Duning, T., Kronlage, M., Heiland, S., Bendszus, M., Muschol, N. & Mautner, V-F., 30.11.2020, In: DIAGNOSTICS. 10, 12

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  39. The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis

    Hennermann, J. B., Guffon, N., Cattaneo, F., Ceravolo, F., Borgwardt, L., Lund, A. M., Gil-Campos, M., Tylki-Szymanska, A. & Muschol, N. M., 29.09.2020, In: ORPHANET J RARE DIS. 15, 1, p. 271

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  40. Therapy development for the mucopolysaccharidoses: Updated consensus recommendations for neuropsychological endpoints

    van der Lee, J. H., Morton, J., Adams, H. R., Clarke, L., Eisengart, J. B., Escolar, M. L., Giugliani, R., Harmatz, P., Hogan, M., Kearney, S., Muenzer, J., Muschol, N., Rust, S., Saville, B. R., Semrud-Clikeman, M., Wang, R. & Shapiro, E., 13.09.2020, In: MOL GENET METAB. 131, 1-2, p. 181-196 16 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  41. Treatment of Fabry's Disease With Migalastat: Outcome From a Prospective Observational Multicenter Study (FAMOUS)

    Lenders, M., Nordbeck, P., Kurschat, C., Karabul, N., Kaufeld, J., Hennermann, J. B., Patten, M., Cybulla, M., Müntze, J., Üçeyler, N., Liu, D., Das, A. M., Sommer, C., Pogoda, C., Reiermann, S., Duning, T., Gaedeke, J., Stumpfe, K., Blaschke, D., Brand, S-M., Mann, W. A., Kampmann, C., Muschol, N., Canaan-Kühl, S. & Brand, E., 08.2020, In: CLIN PHARMACOL THER. 108, 2, p. 326-337 12 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  42. Hematopoietic stem cell transplantation in mucopolysaccharidosis type IIIA: A case description and comparison with a genotype-matched control group

    Köhn, A. F., Grigull, L., du Moulin, M., Kabisch, S., Ammer, L., Rudolph, C. & Muschol, N. M., 06.2020, In: MOL GENET METAB REP. 23, p. 100578

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  43. Enzyme replacement therapy in mice lacking arylsulfatase B targets bone remodeling cells, but not chondrocytes

    Hendrickx, G., Danyukova, T., Baranowsky, A., Rolvien, T., Angermann, A., Schweizer, M., Keller, J., Schröder, J., Meyer-Schwesinger, C., Muschol, N., Paganini, C., Rossi, A., Amling, M., Pohl, S. & Schinke, T., 27.03.2020, In: HUM MOL GENET. 29, 5, p. 803-816 14 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  44. Hip Morphology in Mucolipidosis Type II

    Ammer, L. S., Oussoren, E., Muschol, N. M., Pohl, S., Rubio-Gozalbo, M. E., Santer, R., Stücker, R., Vettorazzi, E. & Breyer, S., 08.03.2020, In: J CLIN MED. 9, 3, p. E728

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  45. Diagnosis and Care of Infants and Children with Pompe Disease

    Hahn, A., Hennermann, J. B., Huemer, M., Kampmann, C., Marquardt, T., Mengel, E., Müller-Felber, W., Muschol, N. M., Rohrbach, M. & Stehling, F., 18.02.2020, In: KLIN PADIATR. 232, 02, p. 55-61 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  46. Airway management and perioperative adverse events in children with mucopolysaccharidoses and mucolipidoses: a retrospective cohort study

    Dohrmann, T., Muschol, N. M., Sehner, S., Punke, M. A., Haas, S. A., Roeher, K., Breyer, S., Koehn, A. F., Ullrich, K., Zöllner, C. & Petzoldt, M., 02.2020, In: PEDIATR ANESTH. 30, 2, p. 181-190 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  47. 2019

  48. Retinal hyperreflective foci in Fabry disease

    Atiskova, Y., Rassuli, R., Koehn, A. F., Golsari, A., Wagenfeld, L., du Moulin, M., Muschol, N. & Dulz, S., 26.12.2019, In: ORPHANET J RARE DIS. 14, 1, p. 296

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  49. Obstructive sleep apnea and craniofacial appearance in MPS type I-Hurler children after hematopoietic stem cell transplantation

    Koehne, T., Müller-Stöver, S., Köhn, A., Stumpfe, K., Lezius, S., Schmid, C., Lukacs, Z., Kahl-Nieke, B. & Muschol, N., 12.2019, In: SLEEP BREATH. 23, 4, p. 1315-1321 7 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  50. "Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay

    Jahic, A., Günther, S., Muschol, N., Fossøy Stadheim, B., Braaten, Ø., Kjensli Hyldebrandt, H., Kuiper, G-A., Tylee, K., Wijburg, F. A. & Beetz, C., 09.2019, In: MOL GENET GENOM MED. 7, 9, p. e00615

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  51. Analysis of the caregiver burden associated with Sanfilippo syndrome type B: panel recommendations based on qualitative and quantitative data

    Shapiro, E., Lourenço, C. M., Mungan, N. O., Muschol, N., O'Neill, C. & Vijayaraghavan, S., 08.07.2019, In: ORPHANET J RARE DIS. 14, 1, p. 168

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  52. The lysosomal storage disorders mucolipidosis type II, type III alpha/beta and type III gamma: Update on GNPTAB and GNPTG mutations

    Velho, R. V., Harms, F. L., Danyukova, T., Ludwig, N. F., Friez, M. J., Cathey, S. S., Filocamo, M., Tappino, B., Güneş, N., Tüysüz, B., Tylee, K. L., Brammeier, K. L., Heptinstall, L., Oussoren, E., van der Ploeg, A. T., Petersen, C., Alves, S., Saavedra, G. D., Schwartz, I. V., Muschol, N., Kutsche, K. & Pohl, S., 07.2019, In: HUM MUTAT. 40, 7, p. 842-864 23 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  53. Dorsal root ganglia volume is increased in patients with the Fabry-related GLA variant p.D313Y

    Godel, T., Bäumer, P., Stumpfe, K., Muschol, N., Kronlage, M., Brunnée, M., Kollmer, J., Heiland, S., Bendszus, M. & Mautner, V-F., 06.2019, In: J NEUROL. 266, 6, p. 1332-1339 8 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  54. Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)

    Muschol, N. M., Pape, D., Kossow, K., Ullrich, K., Arash-Kaps, L., Hennermann, J. B., Stücker, R. & Breyer, S., 02.05.2019, In: ORPHANET J RARE DIS. 14, 1, p. 93

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  55. Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial

    Wijburg, F. A., Whitley, C. B., Muenzer, J., Gasperini, S., Del Toro, M., Muschol, N., Cleary, M., Sevin, C., Shapiro, E., Bhargava, P., Kerr, D. & Alexanderian, D., 02.2019, In: MOL GENET METAB. 126, 2, p. 121-130 10 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

  56. 2018

  57. The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover

    Pohl, S., Angermann, A., Jeschke, A., Hendrickx, G., Yorgan, T. A., Makrypidi-Fraune, G., Steigert, A., Kuehn, S. C., Rolvien, T., Schweizer, M., Koehne, T., Neven, M., Winter, O., Velho, R. V., Albers, J., Streichert, T., Pestka, J. M., Baldauf, C., Breyer, S., Stuecker, R., Muschol, N., Cox, T. M., Saftig, P., Paganini, C., Rossi, A., Amling, M., Braulke, T. & Schinke, T., 12.2018, In: J BONE MINER RES. 33, 12, p. 2186-2201 16 p.

    Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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