Dr. ID: 1927928
Anja Friederike Köhn
Publications
- 2023
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. 5809Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
- 2022
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
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
- 2020
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. 100578Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
- 2019
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. 296Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
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
- 2018
Dorsal root ganglia in vivo morphometry and perfusion in female patients with Fabry disease
Godel, T., Köhn, A., Muschol, N., Kronlage, M., Schwarz, D., Kollmer, J., Heiland, S., Bendszus, M., Mautner, V-F. & Bäumer, P., 11.2018, In: J NEUROL. 265, 11, p. 2723-2729 7 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study
Koehne, T., Köhn, A., Friedrich, R. E., Kordes, U., Schinke, T., Muschol, N. & Kahl-Nieke, B., 04.2018, In: CLIN ORAL INVEST. 22, 3, p. 1541-1549 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
- 2017
The mutation p.D313Y is associated with organ manifestation in Fabry disease
du Moulin, M., Koehn, A. F., Golsari, A., Dulz, S., Atiskova, Y., Patten, M., Münch, J., Avanesov, M., Ullrich, K. & Muschol, N., 11.2017, In: CLIN GENET. 92, 5, p. 528-533 6 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review
Human dorsal root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy
Godel, T., Bäumer, P., Pham, M., Köhn, A., Muschol, N., Kronlage, M., Kollmer, J., Heiland, S., Bendszus, M. & Mautner, V-F., 19.09.2017, In: NEUROLOGY. 89, 12, p. 1274-1282 9 p.Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review