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

Autor: Katharina Stumpfe, Bärbel Kahl-Nieke, Anja Köhn, Nicole Muschol, Sarah Müller-Stöver, Zoltan Lukacs, Till Koehne, Susanne Lezius, Carmen Schmid

Publikováno v: Sleep and Breathing. 23:1315-1321

Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disorder characterized by severe multi-systemic organ manifestations including obstructive sleep apnea syndrome (OSAS). Hematopoietic stem cell transplantation (HSCT) is the treat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1134b7add304b03996747f84c7c7ff3
https://doi.org/10.1007/s11325-019-01900-9

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Künstliche Intelligenz zur diagnostischen Unterstützung ausgewählter seltener lysosomaler Speichererkrankungen: Ergebnisse einer Pilotstudie

Autor: Lorenz Grigull, Christina Lampe, Xiauwei Kortum, Nicole Muschol, Frank Klawonn, Werner Lechner, Susanne Blöß, Anibh M. Das, Anna-Lena Sieg, Sandra Mehmecke, Anja Köhn

Publikováno v: Klinische Pädiatrie. 231:60-66

Zusammenfassung Hintergrund Die Diagnosestellung einer seltenen Stoffwechselerkrankung stellt eine Herausforderung für Familien und betreuende Ärzte dar. Um den Weg zur Diagnose zu unterstützen, wurde ein diagnostisches Werkzeug entwickelt, welche

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35e9726c26cd3050c878adc81840a7de
https://doi.org/10.1055/a-0816-5681

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

Autor: Nicole Muschol, Marcel du Moulin, Luise Ammer, Anja Köhn, Cornelia Rudolph, Sarah Kabisch, Lorenz Grigull

Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 23, Iss, Pp-(2020)

Background Mucopolysaccharidosis type IIIA (MPS IIIA, Sanfilippo A syndrome) is a chronic progressive neurodegenerative storage disorder caused by a deficiency of lysosomal sulfamidase. The clinical hallmarks are sleep disturbances, behavioral abnorm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a778c89879896cc236478fb88a53708d
http://europepmc.org/articles/PMC7093801

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Differences in maxillomandibular morphology among patients with mucopolysaccharidoses I, II, III, IV and VI: a retrospective MRI study

Autor: Uwe Kordes, Thorsten Schinke, Anja Köhn, Bärbel Kahl-Nieke, Nicole Muschol, Reinhard E Friedrich, Till Koehne

Publikováno v: Clinical Oral Investigations. 22:1541-1549

The aims of this study were to analyze the maxillomandibular morphology of patients with mucopolysaccharidosis (MPS) type I, II, III, IVa and VI and to evaluate the craniofacial effect of hematopoietic stem cell transplantation (HCST) in MPS I. One h

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8126ce2252236f2f586dff885d82def8
https://doi.org/10.1007/s00784-017-2240-x

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Dorsal root ganglia in vivo morphometry and perfusion in female patients with Fabry disease

Autor: Tim Godel, Daniel Schwarz, Jennifer Kollmer, Sabine Heiland, Nicole Muschol, Martin Bendszus, Moritz Kronlage, Philipp Bäumer, Victor-Felix Mautner, Anja Köhn

Publikováno v: Journal of neurology. 265(11)

To examine dorsal root ganglia and the proximal nerve segments in female patients with Fabry disease by functional and morphometric magnetic resonance neurography. In this prospective multicenter study the lumbosacral dorsal root ganglia and proximal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c8cf6643029ba6be2c5ab4939d652e6e
https://pubmed.ncbi.nlm.nih.gov/30209652

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Human dorsal root ganglion in vivo morphometry and perfusion in Fabry painful neuropathy

Autor: Sabine Heiland, Tim Godel, Philipp Bäumer, Anja Köhn, Nicole Muschol, Moritz Kronlage, Martin Bendszus, Jennifer Kollmer, Victor-Felix Mautner, Mirko Pham

Publikováno v: Neurology. 89(12)

Objective:To evaluate functional and morphometric magnetic resonance neurography of the dorsal root ganglion and peripheral nerve segments in patients with Fabry painful neuropathy.Methods:In this prospective study, the lumbosacral dorsal root gangli

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ec1302d9b45332b456149119b909b2ca
https://pubmed.ncbi.nlm.nih.gov/28835396

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