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98 results

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Page 1
Sanfilippo syndrome: consensus guidelines for clinical care.
Muschol N, Giugliani R, Jones SA, Muenzer J, Smith NJC, Whitley CB, Donnell M, Drake E, Elvidge K, Melton L, O'Neill C; MPS III Guideline Development Group. Muschol N, et al. Orphanet J Rare Dis. 2022 Oct 27;17(1):391. doi: 10.1186/s13023-022-02484-6. Orphanet J Rare Dis. 2022. PMID: 36303195 Free PMC article. Review.
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 SD, Haas F, Wong MN, Dumoulin B, Rischke P, Mühlig A, Sachs W, von Cossel K, Schulz K, Muschol N, Gersting SW, Muntau AC, Kretz O, Hahn O, Rinschen MM, Mauer M, Bork T, Grahammer F, Liang W, Eierhoff T, Römer W, Hansen A, Meyer-Schwesinger C, Iaccarino G, Tøndel C, Marti HP, Najafian B, Puelles VG, Schell C, Huber TB. Braun F, et al. Among authors: muschol n. J Clin Invest. 2023 Jun 1;133(11):e157782. doi: 10.1172/JCI157782. J Clin Invest. 2023. PMID: 37014703 Free PMC article.
Monitoring and integrated care coordination of patients with alpha-mannosidosis: A global Delphi consensus study.
Guffon N, Burton BK, Ficicioglu C, Magner M, Gil-Campos M, Lopez-Rodriguez MA, Jayakar P, Lund AM, Tal G, Garcia-Ortiz JE, Stepien KM, Ellaway C, Al-Hertani W, Giugliani R, Cathey SS, Hennermann JB, Lampe C, McNutt M, Lagler FB, Scarpa M, Sutton VR, Muschol N. Guffon N, et al. Among authors: muschol n. Mol Genet Metab. 2024 Aug;142(4):108519. doi: 10.1016/j.ymgme.2024.108519. Epub 2024 Jun 23. Mol Genet Metab. 2024. PMID: 39024860 Free article.
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 MJ, Couce ML, Lin SP, Batzios S, Cleary M, Solano M, Nestrasil I, Kaufman B, Shaywitz AJ, Maricich SM, Kuca B, Kovalchin J, Zanelli E. Muschol N, et al. J Clin Invest. 2023 Jan 17;133(2):e165076. doi: 10.1172/JCI165076. J Clin Invest. 2023. PMID: 36413418 Free PMC article. Clinical Trial.
Hip Morphology in Mucolipidosis Type II.
Ammer LS, Oussoren E, Muschol NM, Pohl S, Rubio-Gozalbo ME, Santer R, Stuecker R, Vettorazzi E, Breyer SR. Ammer LS, et al. Among authors: muschol nm. J Clin Med. 2020 Mar 8;9(3):728. doi: 10.3390/jcm9030728. J Clin Med. 2020. PMID: 32182687 Free PMC article.
Hip pathologies in mucopolysaccharidosis type III.
Breyer SR, Vettorazzi E, Schmitz L, Gulati A, von Cossel KM, Spiro A, Rupprecht M, Stuecker R, Muschol NM. Breyer SR, et al. Among authors: muschol nm. J Orthop Surg Res. 2021 Mar 19;16(1):201. doi: 10.1186/s13018-021-02340-6. J Orthop Surg Res. 2021. PMID: 33741007 Free PMC article.
98 results