Muschol N - Search Results

1

Retinal hyperreflective foci in Fabry disease.

Atiskova Y, Rassuli R, Koehn AF, Golsari A, Wagenfeld L, du Moulin M, Muschol N, Dulz S. Atiskova Y, et al. Among authors: muschol n. Orphanet J Rare Dis. 2019 Dec 26;14(1):296. doi: 10.1186/s13023-019-1267-2. Orphanet J Rare Dis. 2019. PMID: 31878969 Free PMC article.

2

A Case of a Bilateral Cicatricial Upper Eyelid Entropion After Hematopoietic Stem Cell Transplantation in Mucopolysaccharidosis Type I.

Dulz S, Wagenfeld L, Richard G, Schrum J, Muschol N, Keserü M. Dulz S, et al. Among authors: muschol n. Ophthalmic Plast Reconstr Surg. 2017 May/Jun;33(3S Suppl 1):S75-S77. doi: 10.1097/IOP.0000000000000592. Ophthalmic Plast Reconstr Surg. 2017. PMID: 26588207

3

Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation.

Schmidt M, Breyer S, Löbel U, Yarar S, Stücker R, Ullrich K, Müller I, Muschol N. Schmidt M, et al. Among authors: muschol n. Orphanet J Rare Dis. 2016 Jul 8;11(1):93. doi: 10.1186/s13023-016-0470-7. Orphanet J Rare Dis. 2016. PMID: 27392569 Free PMC article.

4

The mutation p.D313Y is associated with organ manifestation in Fabry disease.

du Moulin M, Koehn AF, Golsari A, Dulz S, Atiskova Y, Patten M, Münch J, Avanesov M, Ullrich K, Muschol N. du Moulin M, et al. Among authors: muschol n. Clin Genet. 2017 Nov;92(5):528-533. doi: 10.1111/cge.13007. Epub 2017 Apr 24. Clin Genet. 2017. PMID: 28276057

5

p.D313Y is more than just a polymorphism in Fabry disease.

du Moulin M, Muschol N. du Moulin M, et al. Among authors: muschol n. Clin Genet. 2018 Jun;93(6):1258. doi: 10.1111/cge.13233. Clin Genet. 2018. PMID: 29740824 No abstract available.

6

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 VF, Bäumer P. Godel T, et al. Among authors: muschol n. J Neurol. 2018 Nov;265(11):2723-2729. doi: 10.1007/s00415-018-9053-y. Epub 2018 Sep 12. J Neurol. 2018. PMID: 30209652

7

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 VF. Godel T, et al. Among authors: muschol n. J Neurol. 2019 Jun;266(6):1332-1339. doi: 10.1007/s00415-019-09262-8. Epub 2019 Mar 4. J Neurol. 2019. PMID: 30830284

8

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

Muschol NM, Pape D, Kossow K, Ullrich K, Arash-Kaps L, Hennermann JB, Stücker R, Breyer SR. Muschol NM, et al. Orphanet J Rare Dis. 2019 May 2;14(1):93. doi: 10.1186/s13023-019-1065-x. Orphanet J Rare Dis. 2019. PMID: 31046785 Free PMC article.

9

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

Shapiro E, Lourenço CM, Mungan NO, Muschol N, O'Neill C, Vijayaraghavan S. Shapiro E, et al. Among authors: muschol n. Orphanet J Rare Dis. 2019 Jul 8;14(1):168. doi: 10.1186/s13023-019-1150-1. Orphanet J Rare Dis. 2019. PMID: 31287005 Free PMC article.

10

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

Dohrmann T, Muschol NM, Sehner S, Punke MA, Haas SA, Roeher K, Breyer S, Koehn AF, Ullrich K, Zöllner C, Petzoldt M. Dohrmann T, et al. Paediatr Anaesth. 2020 Feb;30(2):181-190. doi: 10.1111/pan.13787. Epub 2020 Jan 27. Paediatr Anaesth. 2020. PMID: 31834659

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