Parini R - Search Results

1

Multidisciplinary management of Hunter syndrome.

Muenzer J, Beck M, Eng CM, Escolar ML, Giugliani R, Guffon NH, Harmatz P, Kamin W, Kampmann C, Koseoglu ST, Link B, Martin RA, Molter DW, Muñoz Rojas MV, Ogilvie JW, Parini R, Ramaswami U, Scarpa M, Schwartz IV, Wood RE, Wraith E. Muenzer J, et al. Among authors: parini r. Pediatrics. 2009 Dec;124(6):e1228-39. doi: 10.1542/peds.2008-0999. Epub 2009 Nov 9. Pediatrics. 2009. PMID: 19901005 Review.

2

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. Among authors: parini r. Genet Med. 2010 Dec;12(12):816-22. doi: 10.1097/GIM.0b013e3181f6e74d. Genet Med. 2010. PMID: 21045710 Free article.

3

Safety of agalsidase alfa in patients with Fabry disease under 7 years.

Ramaswami U, Parini R, Kampmann C, Beck M. Ramaswami U, et al. Among authors: parini r. Acta Paediatr. 2011 Apr;100(4):605-11. doi: 10.1111/j.1651-2227.2010.02101.x. Epub 2011 Jan 12. Acta Paediatr. 2011. PMID: 21114524

4

Fabry disease in children and response to enzyme replacement therapy: results from the Fabry Outcome Survey.

Ramaswami U, Parini R, Pintos-Morell G, Kalkum G, Kampmann C, Beck M; FOS Investigators. Ramaswami U, et al. Among authors: parini r. Clin Genet. 2012 May;81(5):485-90. doi: 10.1111/j.1399-0004.2011.01671.x. Epub 2011 Apr 25. Clin Genet. 2012. PMID: 21457233

5

The effect of galsulfase enzyme replacement therapy on the growth of patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome).

Harmatz P, Hendriksz CJ, Lampe C, McGill JJ, Parini R, Leão-Teles E, Valayannopoulos V, Cole TJ, Matousek R, Graham S, Guffon N, Quartel A; MPS VI Study Group. Harmatz P, et al. Among authors: parini r. Mol Genet Metab. 2017 Sep;122(1-2):107-112. doi: 10.1016/j.ymgme.2017.03.008. Epub 2017 Mar 31. Mol Genet Metab. 2017. PMID: 28457718 Free article. Clinical Trial.

6

Clinical outcomes in a subpopulation of adults with Morquio A syndrome: results from a long-term extension study of elosulfase alfa.

Hughes D, Giugliani R, Guffon N, Jones SA, Mengel KE, Parini R, Matousek R, Hawley SM, Quartel A. Hughes D, et al. Among authors: parini r. Orphanet J Rare Dis. 2017 May 23;12(1):98. doi: 10.1186/s13023-017-0634-0. Orphanet J Rare Dis. 2017. PMID: 28535791 Free PMC article. Clinical Trial.

7

Enzyme replacement therapy with agalsidase alfa in children with Fabry disease.

Ramaswami U, Wendt S, Pintos-Morell G, Parini R, Whybra C, Leon Leal JA, Santus F, Beck M. Ramaswami U, et al. Among authors: parini r. Acta Paediatr. 2007 Jan;96(1):122-7. doi: 10.1111/j.1651-2227.2007.00029.x. Acta Paediatr. 2007. PMID: 17187618 Clinical Trial.

8

Clinical manifestations of Fabry disease in children: data from the Fabry Outcome Survey.

Ramaswami U, Whybra C, Parini R, Pintos-Morell G, Mehta A, Sunder-Plassmann G, Widmer U, Beck M; FOS European Investigators. Ramaswami U, et al. Among authors: parini r. Acta Paediatr. 2006 Jan;95(1):86-92. doi: 10.1080/08035250500275022. Acta Paediatr. 2006. PMID: 16498740

9

Fabry disease and the skin: data from FOS, the Fabry outcome survey.

Orteu CH, Jansen T, Lidove O, Jaussaud R, Hughes DA, Pintos-Morell G, Ramaswami U, Parini R, Sunder-Plassman G, Beck M, Mehta AB; FOS Investigators. Orteu CH, et al. Among authors: parini r. Br J Dermatol. 2007 Aug;157(2):331-7. doi: 10.1111/j.1365-2133.2007.08002.x. Epub 2007 Jun 15. Br J Dermatol. 2007. PMID: 17573884

10

Recognition of alpha-mannosidosis in paediatric and adult patients: Presentation of a diagnostic algorithm from an international working group.

Guffon N, Tylki-Szymanska A, Borgwardt L, Lund AM, Gil-Campos M, Parini R, Hennermann JB. Guffon N, et al. Among authors: parini r. Mol Genet Metab. 2019 Apr;126(4):470-474. doi: 10.1016/j.ymgme.2019.01.024. Epub 2019 Jan 31. Mol Genet Metab. 2019. PMID: 30792122 Free article.

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