Guffon N - Search Results

1

Orthopedic manifestations in patients with mucopolysaccharidosis type II (Hunter syndrome) enrolled in the Hunter Outcome Survey.

Link B, de Camargo Pinto LL, Giugliani R, Wraith JE, Guffon N, Eich E, Beck M. Link B, et al. Among authors: guffon n. Orthop Rev (Pavia). 2010 Sep 23;2(2):e16. doi: 10.4081/or.2010.e16. Orthop Rev (Pavia). 2010. PMID: 21808707 Free PMC article.

2

Threshold effect of urinary glycosaminoglycans and the walk test as indicators of disease progression in a survey of subjects with Mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

Swiedler SJ, Beck M, Bajbouj M, Giugliani R, Schwartz I, Harmatz P, Wraith JE, Roberts J, Ketteridge D, Hopwood JJ, Guffon N, Sá Miranda MC, Teles EL, Berger KI, Piscia-Nichols C. Swiedler SJ, et al. Among authors: guffon n. Am J Med Genet A. 2005 Apr 15;134A(2):144-50. doi: 10.1002/ajmg.a.30579. Am J Med Genet A. 2005. PMID: 15690405

3

Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of recombinant human N-acetylgalactosamine 4-sulfatase (recombinant human arylsulfatase B or rhASB) and follow-on, open-label extension study.

Harmatz P, Giugliani R, Schwartz I, Guffon N, Teles EL, Miranda MC, Wraith JE, Beck M, Arash L, Scarpa M, Yu ZF, Wittes J, Berger KI, Newman MS, Lowe AM, Kakkis E, Swiedler SJ; MPS VI Phase 3 Study Group. Harmatz P, et al. Among authors: guffon n. J Pediatr. 2006 Apr;148(4):533-539. doi: 10.1016/j.jpeds.2005.12.014. J Pediatr. 2006. PMID: 16647419 Clinical Trial.

4

The MPS I registry: design, methodology, and early findings of a global disease registry for monitoring patients with Mucopolysaccharidosis Type I.

Pastores GM, Arn P, Beck M, Clarke JT, Guffon N, Kaplan P, Muenzer J, Norato DY, Shapiro E, Thomas J, Viskochil D, Wraith JE. Pastores GM, et al. Among authors: guffon n. Mol Genet Metab. 2007 May;91(1):37-47. doi: 10.1016/j.ymgme.2007.01.011. Epub 2007 Mar 2. Mol Genet Metab. 2007. PMID: 17336562

5

Mutational analysis of 105 mucopolysaccharidosis type VI patients.

Karageorgos L, Brooks DA, Pollard A, Melville EL, Hein LK, Clements PR, Ketteridge D, Swiedler SJ, Beck M, Giugliani R, Harmatz P, Wraith JE, Guffon N, Leão Teles E, Sá Miranda MC, Hopwood JJ. Karageorgos L, et al. Among authors: guffon n. Hum Mutat. 2007 Sep;28(9):897-903. doi: 10.1002/humu.20534. Hum Mutat. 2007. PMID: 17458871

6

Enzyme replacement therapy in patients who have mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human alpha-L-iduronidase (laronidase).

Wraith JE, Beck M, Lane R, van der Ploeg A, Shapiro E, Xue Y, Kakkis ED, Guffon N. Wraith JE, et al. Among authors: guffon n. Pediatrics. 2007 Jul;120(1):e37-46. doi: 10.1542/peds.2006-2156. Epub 2007 Jun 4. Pediatrics. 2007. PMID: 17606547 Clinical Trial.

7

Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.

Wraith JE, Scarpa M, Beck M, Bodamer OA, De Meirleir L, Guffon N, Meldgaard Lund A, Malm G, Van der Ploeg AT, Zeman J. Wraith JE, et al. Among authors: guffon n. Eur J Pediatr. 2008 Mar;167(3):267-77. doi: 10.1007/s00431-007-0635-4. Epub 2007 Nov 23. Eur J Pediatr. 2008. PMID: 18038146 Free PMC article. Review.

8

Safety and efficacy of enzyme replacement therapy with agalsidase beta: an international, open-label study in pediatric patients with Fabry disease.

Wraith JE, Tylki-Szymanska A, Guffon N, Lien YH, Tsimaratos M, Vellodi A, Germain DP. Wraith JE, et al. Among authors: guffon n. J Pediatr. 2008 Apr;152(4):563-70, 570.e1. doi: 10.1016/j.jpeds.2007.09.007. Epub 2007 Dec 3. J Pediatr. 2008. PMID: 18346516 Clinical Trial.

9

Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase.

Harmatz P, Giugliani R, D Schwartz IV, Guffon N, Teles EL, Miranda MCS, Wraith JE, Beck M, Arash L, Scarpa M, Ketteridge D, Hopwood JJ, Plecko B, Steiner R, Whitley CB, Kaplan P, Yu ZF, Swiedler SJ, Decker C; MPS VI Study Group. Harmatz P, et al. Among authors: guffon n. Mol Genet Metab. 2008 Aug;94(4):469-475. doi: 10.1016/j.ymgme.2008.04.001. Epub 2008 May 23. Mol Genet Metab. 2008. PMID: 18502162 Clinical Trial.

10

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

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My NCBI Filters

Text availability

Article attribute

Article type

Publication date

148 results

Search Page