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Page 1
Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure.
de Ru MH, Boelens JJ, Das AM, Jones SA, van der Lee JH, Mahlaoui N, Mengel E, Offringa M, O'Meara A, Parini R, Rovelli A, Sykora KW, Valayannopoulos V, Vellodi A, Wynn RF, Wijburg FA. de Ru MH, et al. Among authors: mengel e. Orphanet J Rare Dis. 2011 Aug 10;6:55. doi: 10.1186/1750-1172-6-55. Orphanet J Rare Dis. 2011. PMID: 21831279 Free PMC article.
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study.
Hendriksz CJ, Burton B, Fleming TR, Harmatz P, Hughes D, Jones SA, Lin SP, Mengel E, Scarpa M, Valayannopoulos V, Giugliani R; STRIVE Investigators; Slasor P, Lounsbury D, Dummer W. Hendriksz CJ, et al. Among authors: mengel e. J Inherit Metab Dis. 2014 Nov;37(6):979-90. doi: 10.1007/s10545-014-9715-6. Epub 2014 May 9. J Inherit Metab Dis. 2014. PMID: 24810369 Free PMC article. Clinical Trial.
Multi-domain impact of elosufase alfa in Morquio A syndrome in the pivotal phase III trial.
Hendriksz CJ, Giugliani R, Harmatz P, Mengel E, Guffon N, Valayannopoulos V, Parini R, Hughes D, Pastores GM, Lau HA, Al-Sayed MD, Raiman J; STRIVE Investigators; Yang K, Mealiffe M, Haller C. Hendriksz CJ, et al. Among authors: mengel e. Mol Genet Metab. 2015 Feb;114(2):178-85. doi: 10.1016/j.ymgme.2014.08.012. Epub 2014 Sep 6. Mol Genet Metab. 2015. PMID: 25284089 Free article. Clinical Trial.
Survival and Developmental Milestones Among Pompe Registry Patients with Classic Infantile-Onset Pompe Disease with Different Timing of Initiation of Treatment with Enzyme Replacement Therapy.
Chien YH, van der Ploeg A, Jones S, Byrne B, Vellodi A, Leslie N, Mengel E, Shankar SP, Tanpaiboon P, Stockton DW, Hennermann JB, Devecseri Z, Kempf J, Keutzer J, Kishnani P. Chien YH, et al. Among authors: mengel e. J Neuromuscul Dis. 2015;2(s1):S61-S62. J Neuromuscul Dis. 2015. PMID: 27858651 No abstract available.
Lysosomal acid lipase deficiency: Expanding differential diagnosis.
Valayannopoulos V, Mengel E, Brassier A, Grabowski G. Valayannopoulos V, et al. Among authors: mengel e. Mol Genet Metab. 2017 Jan-Feb;120(1-2):62-66. doi: 10.1016/j.ymgme.2016.11.002. Epub 2016 Nov 10. Mol Genet Metab. 2017. PMID: 27876313
Consensus clinical management guidelines for Niemann-Pick disease type C.
Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP, Vanier MT, Walterfang M, Bolton S, Dawson C, Héron B, Stampfer M, Imrie J, Hendriksz C, Gissen P, Crushell E, Coll MJ, Nadjar Y, Klünemann H, Mengel E, Hrebicek M, Jones SA, Ory D, Bembi B, Patterson M; International Niemann-Pick Disease Registry (INPDR). Geberhiwot T, et al. Among authors: mengel e. Orphanet J Rare Dis. 2018 Apr 6;13(1):50. doi: 10.1186/s13023-018-0785-7. Orphanet J Rare Dis. 2018. PMID: 29625568 Free PMC article. Review.
145 results