Muschol N - Search Results

1

Long-term experience with enzyme replacement therapy (ERT) in MPS II patients with a severe phenotype: an international case series.

Lampe C, Bosserhoff AK, Burton BK, Giugliani R, de Souza CF, Bittar C, Muschol N, Olson R, Mendelsohn NJ. Lampe C, et al. Among authors: muschol n. J Inherit Metab Dis. 2014 Sep;37(5):823-9. doi: 10.1007/s10545-014-9686-7. Epub 2014 Mar 5. J Inherit Metab Dis. 2014. PMID: 24596019 Free PMC article.

2

Effects of Infantile Hypophosphatasia on Human Dental Tissue.

Wölfel EM, von Kroge S, Matthies L, Koehne T, Petz K, Beikler T, Schmid-Herrmann CU, Kahl-Nieke B, Tsiakas K, Santer R, Muschol NM, Herrmann J, Busse B, Amling M, Rolvien T, Jandl NM, Barvencik F. Wölfel EM, et al. Calcif Tissue Int. 2023 Mar;112(3):308-319. doi: 10.1007/s00223-022-01041-4. Epub 2022 Nov 21. Calcif Tissue Int. 2023. PMID: 36414794 Free PMC article.

3

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

Ammer LS, Täuber K, Perez A, Dohrmann T, Denecke J, Santer R, Blümlein U, Ozga AK, Pohl S, Muschol NM. Ammer LS, et al. J Clin Med. 2023 Jun 18;12(12):4114. doi: 10.3390/jcm12124114. J Clin Med. 2023. PMID: 37373807 Free PMC article.

4

Mortality and cause of death in mucopolysaccharidosis type II-a historical review based on data from the Hunter Outcome Survey (HOS).

Jones SA, Almássy Z, Beck M, Burt K, Clarke JT, Giugliani R, Hendriksz C, Kroepfl T, Lavery L, Lin SP, Malm G, Ramaswami U, Tincheva R, Wraith JE; HOS Investigators. Jones SA, et al. J Inherit Metab Dis. 2009 Aug;32(4):534-43. doi: 10.1007/s10545-009-1119-7. Epub 2009 Jul 14. J Inherit Metab Dis. 2009. PMID: 19597960

5

Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.

Mendelsohn NJ, Harmatz P, Bodamer O, Burton BK, Giugliani R, Jones SA, Lampe C, Malm G, Steiner RD, Parini R; Hunter Outcome Survey Investigators. Mendelsohn NJ, et al. Genet Med. 2010 Dec;12(12):816-22. doi: 10.1097/GIM.0b013e3181f6e74d. Genet Med. 2010. PMID: 21045710 Free article.

6

Development of a mnemonic screening tool for identifying subjects with Hunter syndrome.

Cohn GM, Morin I, Whiteman DA; Hunter Outcome Survey Investigators. Cohn GM, et al. Eur J Pediatr. 2013 Jul;172(7):965-70. doi: 10.1007/s00431-013-1967-x. Epub 2013 Mar 7. Eur J Pediatr. 2013. PMID: 23468122 Free PMC article.

7

Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: A randomized, double-blind, pilot study.

Burton BK, Berger KI, Lewis GD, Tarnopolsky M, Treadwell M, Mitchell JJ, Muschol N, Jones SA, Sutton VR, Pastores GM, Lau H, Sparkes R, Genter F, Shaywitz AJ, Harmatz P. Burton BK, et al. Among authors: muschol n. Am J Med Genet A. 2015 Oct;167A(10):2272-81. doi: 10.1002/ajmg.a.37172. Epub 2015 Jun 10. Am J Med Genet A. 2015. PMID: 26069231 Free PMC article. Clinical Trial.

8

Impact of elosulfase alfa in patients with morquio A syndrome who have limited ambulation: An open-label, phase 2 study.

Harmatz PR, Mengel E, Geberhiwot T, Muschol N, Hendriksz CJ, Burton BK, Jameson E, Berger KI, Jester A, Treadwell M, Sisic Z, Decker C. Harmatz PR, et al. Among authors: muschol n. Am J Med Genet A. 2017 Feb;173(2):375-383. doi: 10.1002/ajmg.a.38014. Epub 2016 Oct 24. Am J Med Genet A. 2017. PMID: 27774754 Free PMC article. Clinical Trial.

9

Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elosulfase Alfa.

Berger KI, Burton BK, Lewis GD, Tarnopolsky M, Harmatz PR, Mitchell JJ, Muschol N, Jones SA, Sutton VR, Pastores GM, Lau H, Sparkes R, Shaywitz AJ. Berger KI, et al. Among authors: muschol n. JIMD Rep. 2018;42:9-17. doi: 10.1007/8904_2017_70. Epub 2017 Nov 21. JIMD Rep. 2018. PMID: 29159458 Free PMC article.

10

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosis.

Lund AM, Borgwardt L, Cattaneo F, Ardigò D, Geraci S, Gil-Campos M, De Meirleir L, Laroche C, Dolhem P, Cole D, Tylki-Szymanska A, Lopez-Rodriguez M, Guillén-Navarro E, Dali CI, Héron B, Fogh J, Muschol N, Phillips D, Van den Hout JMH, Jones SA, Amraoui Y, Harmatz P, Guffon N. Lund AM, et al. Among authors: muschol n. J Inherit Metab Dis. 2018 Nov;41(6):1225-1233. doi: 10.1007/s10545-018-0175-2. Epub 2018 May 3. J Inherit Metab Dis. 2018. PMID: 29725868 Free PMC article. Clinical Trial.

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