Del Toro M - Search Results

1

A multicenter open-label extension study of intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A.

Wijburg FA, Whitley CB, Muenzer J, Gasperini S, Del Toro M, Muschol N, Cleary M, Sevin C, Shapiro E, Alexanderian D. Wijburg FA, et al. Among authors: del toro m. Mol Genet Metab. 2021 Sep-Oct;134(1-2):175-181. doi: 10.1016/j.ymgme.2021.07.001. Epub 2021 Jul 7. Mol Genet Metab. 2021. PMID: 34247932 Free article. Clinical Trial.

2

Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.

Wijburg FA, Whitley CB, Muenzer J, Gasperini S, Del Toro M, Muschol N, Cleary M, Sevin C, Shapiro E, Bhargava P, Kerr D, Alexanderian D. Wijburg FA, et al. Among authors: del toro m. Mol Genet Metab. 2019 Feb;126(2):121-130. doi: 10.1016/j.ymgme.2018.10.006. Epub 2018 Oct 24. Mol Genet Metab. 2019. PMID: 30528227 Free article. Clinical Trial.

3

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

4

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.

5

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.

6

Efficacy of Idursulfase therapy in patients with Mucopolysaccharidosis type II who initiated enzyme replacement therapy in adult age. A systematic review of the literature.

Pérez-López J, Moltó-Abad M, Muñoz-Delgado C, Morales-Conejo M, Ceberio-Hualde L, Del Toro M. Pérez-López J, et al. Among authors: del toro m. Mol Genet Metab. 2018 Jul;124(3):216-227. doi: 10.1016/j.ymgme.2018.04.013. Epub 2018 Apr 30. Mol Genet Metab. 2018. PMID: 29801985

7

Transition of patients with mucopolysaccharidosis from paediatric to adult care.

Lampe C, McNelly B, Gevorkian AK, Hendriksz CJ, Lobzhanidze TV, Pérez-López J, Stepien KM, Vashakmadze ND, Del Toro M. Lampe C, et al. Among authors: del toro m. Mol Genet Metab Rep. 2019 Oct 21;21:100508. doi: 10.1016/j.ymgmr.2019.100508. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31687335 Free PMC article.

8

Elosulfase alfa for mucopolysaccharidosis type IVA: Real-world experience in 7 patients from the Spanish Morquio-A early access program.

Pintos-Morell G, Blasco-Alonso J, Couce ML, Gutiérrez-Solana LG, Guillén-Navarro E, O'Callaghan M, Del Toro M. Pintos-Morell G, et al. Among authors: del toro m. Mol Genet Metab Rep. 2018 Apr 5;15:116-120. doi: 10.1016/j.ymgmr.2018.03.009. eCollection 2018 Jun. Mol Genet Metab Rep. 2018. PMID: 30023300 Free PMC article.

9

Gaucher disease type 3c: New patients with unique presentations and review of the literature.

Kurolap A, Del Toro M, Spiegel R, Gutstein A, Shafir G, Cohen IJ, Barrabés JA, Feldman HB. Kurolap A, et al. Among authors: del toro m. Mol Genet Metab. 2019 Jun;127(2):138-146. doi: 10.1016/j.ymgme.2019.05.011. Epub 2019 May 21. Mol Genet Metab. 2019. PMID: 31130326 Review.

10

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood.

Baide-Mairena H, Gaudó P, Marti-Sánchez L, Emperador S, Sánchez-Montanez A, Alonso-Luengo O, Correa M, Grau AM, Ortigoza-Escobar JD, Artuch R, Vázquez E, Del Toro M, Garrido-Pérez N, Ruiz-Pesini E, Montoya J, Bayona-Bafaluy MP, Pérez-Dueñas B. Baide-Mairena H, et al. Among authors: del toro m. Mol Genet Metab. 2019 Mar;126(3):250-258. doi: 10.1016/j.ymgme.2019.01.001. Epub 2019 Jan 5. Mol Genet Metab. 2019. PMID: 30642748 Review.

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